UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152139956C>G , CM000668.2:g.152139956C>G | GRCh38 |
| NC_000006.11:g.152461091C>G , CM000668.1:g.152461091C>G | GRCh37 |
| NC_000006.10:g.152502784C>G | NCBI36 |
| NG_012855.1:g.502444G>C | |
| NG_012855.2:g.502444G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1986G>C MANE Plus Clinical | ENSP00000346701.4:p.Lys662Asn | |
| ENST00000367255.10:c.25452G>C MANE Select | ENSP00000356224.5:p.Lys8484Asn | |
| ENST00000423061.6:c.25308G>C | ENSP00000396024.1:p.Lys8436Asn | |
| ENST00000672154.1:c.854G>C | ||
| ENST00000672169.1:c.1187G>C | ||
| ENST00000673173.1:c.1096G>C | ||
| ENST00000673451.1:c.1224G>C | ENSP00000500189.1:p.Lys408Asn | |
| ENST00000341594.9:c.24237G>C | ENSP00000341887.6:p.Lys8079Asn | |
| ENST00000347037.9:n.2200G>C | ||
| ENST00000354674.4:c.1986G>C | ENSP00000346701.4:p.Lys662Asn | |
| ENST00000367251.7:c.4287G>C | ENSP00000356220.3:p.Lys1429Asn | |
| ENST00000367255.9:c.25452G>C | ENSP00000356224.5:p.Lys8484Asn | |
| ENST00000367256.9:n.9144G>C | ||
| ENST00000367257.8:c.3390G>C | ENSP00000356226.4:p.Lys1130Asn | |
| ENST00000409694.6:n.9036G>C | ||
| ENST00000423061.5:c.25308G>C | ENSP00000396024.1:p.Lys8436Asn | |
| ENST00000460912.6:n.2066G>C | ||
| ENST00000478916.5:n.4474G>C | ||
| ENST00000536990.5:n.2289G>C | ||
| ENST00000539504.5:c.1917G>C | ENSP00000441052.1:p.Lys639Asn | |
| NM_033071.3:c.25308G>C | NP_149062.1:p.Lys8436Asn | |
| NM_182961.3:c.25452G>C | NP_892006.3:p.Lys8484Asn | |
| XM_006715407.1:c.25557G>C | XP_006715470.1:p.Lys8519Asn | |
| XM_006715408.1:c.25545G>C | XP_006715471.1:p.Lys8515Asn | |
| XM_006715409.1:c.25536G>C | XP_006715472.1:p.Lys8512Asn | |
| XM_006715410.1:c.25557G>C | XP_006715473.1:p.Lys8519Asn | |
| XM_006715411.1:c.25506G>C | XP_006715474.1:p.Lys8502Asn | |
| XM_006715412.1:c.25542G>C | XP_006715475.1:p.Lys8514Asn | |
| XM_006715413.1:c.25488G>C | XP_006715476.1:p.Lys8496Asn | |
| XM_006715414.1:c.25485G>C | XP_006715477.1:p.Lys8495Asn | |
| XM_006715415.1:c.25488G>C | XP_006715478.1:p.Lys8496Asn | |
| XM_006715416.1:c.25473G>C | XP_006715479.1:p.Lys8491Asn | |
| XM_006715417.1:c.25416G>C | XP_006715480.1:p.Lys8472Asn | |
| XM_006715420.1:c.25404G>C | XP_006715483.1:p.Lys8468Asn | |
| XM_006715421.1:c.25401G>C | XP_006715484.1:p.Lys8467Asn | |
| XM_006715422.1:c.25398G>C | XP_006715485.1:p.Lys8466Asn | |
| XM_006715423.1:c.25557G>C | XP_006715486.1:p.Lys8519Asn | |
| XM_006715424.1:c.25557G>C | XP_006715487.1:p.Lys8519Asn | |
| XM_006715425.1:c.25488G>C | XP_006715488.1:p.Lys8496Asn | |
| XM_011535641.1:c.25554G>C | XP_011533943.1:p.Lys8518Asn | |
| XM_011535642.1:c.25542G>C | XP_011533944.1:p.Lys8514Asn | |
| XM_011535643.1:c.25392G>C | XP_011533945.1:p.Lys8464Asn | |
| XM_011535644.1:c.23832G>C | XP_011533946.1:p.Lys7944Asn | |
| XM_011535645.1:c.23325G>C | XP_011533947.1:p.Lys7775Asn | |
| XM_011535647.1:c.18792G>C | XP_011533949.1:p.Lys6264Asn | |
| NM_001347701.1:c.2058G>C | NP_001334630.1:p.Lys686Asn | |
| NM_001347702.1:c.1986G>C | NP_001334631.1:p.Lys662Asn | |
| XM_006715408.2:c.25545G>C | XP_006715471.1:p.Lys8515Asn | |
| XM_006715410.2:c.25557G>C | XP_006715473.1:p.Lys8519Asn | |
| XM_006715412.2:c.25542G>C | XP_006715475.1:p.Lys8514Asn | |
| XM_006715413.2:c.25488G>C | XP_006715476.1:p.Lys8496Asn | |
| XM_006715415.2:c.25488G>C | XP_006715478.1:p.Lys8496Asn | |
| XM_006715416.2:c.25473G>C | XP_006715479.1:p.Lys8491Asn | |
| XM_006715417.2:c.25416G>C | XP_006715480.1:p.Lys8472Asn | |
| XM_006715420.2:c.25404G>C | XP_006715483.1:p.Lys8468Asn | |
| XM_006715421.2:c.25401G>C | XP_006715484.1:p.Lys8467Asn | |
| XM_006715423.2:c.25557G>C | XP_006715486.1:p.Lys8519Asn | |
| XM_006715424.2:c.25557G>C | XP_006715487.1:p.Lys8519Asn | |
| XM_006715425.2:c.25488G>C | XP_006715488.1:p.Lys8496Asn | |
| XM_011535641.2:c.25554G>C | XP_011533943.1:p.Lys8518Asn | |
| XM_011535642.2:c.25542G>C | XP_011533944.1:p.Lys8514Asn | |
| XM_011535645.2:c.23325G>C | XP_011533947.1:p.Lys7775Asn | |
| XM_017010608.1:c.25557G>C | XP_016866097.1:p.Lys8519Asn | |
| XM_017010609.1:c.25557G>C | XP_016866098.1:p.Lys8519Asn | |
| XM_017010610.1:c.25536G>C | XP_016866099.1:p.Lys8512Asn | |
| XM_017010611.2:c.25530G>C | XP_016866100.1:p.Lys8510Asn | |
| XM_017010612.1:c.25479G>C | XP_016866101.1:p.Lys8493Asn | |
| XM_017010613.1:c.25485G>C | XP_016866102.1:p.Lys8495Asn | |
| XM_017010614.1:c.25401G>C | XP_016866103.1:p.Lys8467Asn | |
| XM_017010615.1:c.25332G>C | XP_016866104.1:p.Lys8444Asn | |
| XM_017010616.1:c.25488G>C | XP_016866105.1:p.Lys8496Asn | |
| XM_017010617.1:c.25485G>C | XP_016866106.1:p.Lys8495Asn | |
| XM_017010618.1:c.25473G>C | XP_016866107.1:p.Lys8491Asn | |
| XM_017010619.1:c.23832G>C | XP_016866108.1:p.Lys7944Asn | |
| NM_182961.4:c.25452G>C MANE Select | NP_892006.3:p.Lys8484Asn | |
| NM_001347701.2:c.2058G>C | NP_001334630.1:p.Lys686Asn | |
| NM_001347702.2:c.1986G>C MANE Plus Clinical | NP_001334631.1:p.Lys662Asn | |
| NM_033071.5:c.25308G>C | NP_149062.2:p.Lys8436Asn |