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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152425572T= , CM000668.2:g.152425572T= | GRCh38 |
| NC_000006.11:g.152746707T= , CM000668.1:g.152746707T= | GRCh37 |
| NC_000006.10:g.152788400T= | NCBI36 |
| NG_012855.1:g.216828A= | |
| NG_012855.2:g.216828A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367255.10:c.5101-25A= MANE Select | ENSP00000356224.5:n.5101-25A= | |
| ENST00000423061.6:c.5122-25A= | ENSP00000396024.1:n.5122-25A= | |
| ENST00000341594.9:c.5240-104A= | ENSP00000341887.6:n.5240-104A= | |
| ENST00000367255.9:c.5101-25A= | ENSP00000356224.5:n.5101-25A= | |
| ENST00000423061.5:c.5122-25A= | ENSP00000396024.1:n.5122-25A= | |
| ENST00000461872.6:n.5319-25A= | ||
| NM_033071.3:c.5122-25A= | NP_149062.1:n.5122-25A= | |
| NM_182961.3:c.5101-25A= | NP_892006.3:n.5101-25A= | |
| XM_006715407.1:c.5122-25A= | XP_006715470.1:n.5122-25A= | |
| XM_006715408.1:c.5122-25A= | XP_006715471.1:n.5122-25A= | |
| XM_006715409.1:c.5101-25A= | XP_006715472.1:n.5101-25A= | |
| XM_006715410.1:c.5122-25A= | XP_006715473.1:n.5122-25A= | |
| XM_006715411.1:c.5071-25A= | XP_006715474.1:n.5071-25A= | |
| XM_006715412.1:c.5122-25A= | XP_006715475.1:n.5122-25A= | |
| XM_006715413.1:c.5122-25A= | XP_006715476.1:n.5122-25A= | |
| XM_006715414.1:c.5050-25A= | XP_006715477.1:n.5050-25A= | |
| XM_006715415.1:c.5122-25A= | XP_006715478.1:n.5122-25A= | |
| XM_006715416.1:c.5122-25A= | XP_006715479.1:n.5122-25A= | |
| XM_006715417.1:c.5122-25A= | XP_006715480.1:n.5122-25A= | |
| XM_006715420.1:c.5122-25A= | XP_006715483.1:n.5122-25A= | |
| XM_006715421.1:c.5122-25A= | XP_006715484.1:n.5122-25A= | |
| XM_006715422.1:c.4963-25A= | XP_006715485.1:n.4963-25A= | |
| XM_006715423.1:c.5122-25A= | XP_006715486.1:n.5122-25A= | |
| XM_006715424.1:c.5122-25A= | XP_006715487.1:n.5122-25A= | |
| XM_006715425.1:c.5122-25A= | XP_006715488.1:n.5122-25A= | |
| XM_011535641.1:c.5122-25A= | XP_011533943.1:n.5122-25A= | |
| XM_011535642.1:c.5122-25A= | XP_011533944.1:n.5122-25A= | |
| XM_011535643.1:c.4957-25A= | XP_011533945.1:n.4957-25A= | |
| XM_011535644.1:c.3397-25A= | XP_011533946.1:n.3397-25A= | |
| XM_011535645.1:c.2890-25A= | XP_011533947.1:n.2890-25A= | |
| XM_011535646.1:c.5122-25A= | XP_011533948.1:n.5122-25A= | |
| XM_006715408.2:c.5122-25A= | XP_006715471.1:n.5122-25A= | |
| XM_006715410.2:c.5122-25A= | XP_006715473.1:n.5122-25A= | |
| XM_006715412.2:c.5122-25A= | XP_006715475.1:n.5122-25A= | |
| XM_006715413.2:c.5122-25A= | XP_006715476.1:n.5122-25A= | |
| XM_006715415.2:c.5122-25A= | XP_006715478.1:n.5122-25A= | |
| XM_006715416.2:c.5122-25A= | XP_006715479.1:n.5122-25A= | |
| XM_006715417.2:c.5122-25A= | XP_006715480.1:n.5122-25A= | |
| XM_006715420.2:c.5122-25A= | XP_006715483.1:n.5122-25A= | |
| XM_006715421.2:c.5122-25A= | XP_006715484.1:n.5122-25A= | |
| XM_006715423.2:c.5122-25A= | XP_006715486.1:n.5122-25A= | |
| XM_006715424.2:c.5122-25A= | XP_006715487.1:n.5122-25A= | |
| XM_006715425.2:c.5122-25A= | XP_006715488.1:n.5122-25A= | |
| XM_011535641.2:c.5122-25A= | XP_011533943.1:n.5122-25A= | |
| XM_011535642.2:c.5122-25A= | XP_011533944.1:n.5122-25A= | |
| XM_011535645.2:c.2890-25A= | XP_011533947.1:n.2890-25A= | |
| XM_017010608.1:c.5122-25A= | XP_016866097.1:n.5122-25A= | |
| XM_017010609.1:c.5122-25A= | XP_016866098.1:n.5122-25A= | |
| XM_017010610.1:c.5101-25A= | XP_016866099.1:n.5101-25A= | |
| XM_017010611.2:c.5095-25A= | XP_016866100.1:n.5095-25A= | |
| XM_017010612.1:c.5044-25A= | XP_016866101.1:n.5044-25A= | |
| XM_017010613.1:c.5122-25A= | XP_016866102.1:n.5122-25A= | |
| XM_017010614.1:c.5122-25A= | XP_016866103.1:n.5122-25A= | |
| XM_017010615.1:c.5122-25A= | XP_016866104.1:n.5122-25A= | |
| XM_017010616.1:c.5122-25A= | XP_016866105.1:n.5122-25A= | |
| XM_017010617.1:c.5122-25A= | XP_016866106.1:n.5122-25A= | |
| XM_017010618.1:c.5122-25A= | XP_016866107.1:n.5122-25A= | |
| XM_017010619.1:c.3397-25A= | XP_016866108.1:n.3397-25A= | |
| XR_001743287.1:n.5605-25A= | ||
| NM_182961.4:c.5101-25A= MANE Select | NP_892006.3:n.5101-25A= | |
| NM_033071.5:c.5122-25A= | NP_149062.2:n.5122-25A= |