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.152151989C>T , CM000668.2:g.152151989C>T | GRCh38 |
| NC_000006.11:g.152473124C>T , CM000668.1:g.152473124C>T | GRCh37 |
| NC_000006.10:g.152514817C>T | NCBI36 |
| NG_012855.1:g.490411G>A | |
| NG_012855.2:g.490411G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.747G>A MANE Plus Clinical | ENSP00000346701.4:p.Lys249= | |
| ENST00000367255.10:c.24282G>A MANE Select | ENSP00000356224.5:p.Lys8094= | |
| ENST00000423061.6:c.24069G>A | ENSP00000396024.1:p.Lys8023= | |
| ENST00000672169.1:c.17G>A | ||
| ENST00000673173.1:c.196G>A | ||
| ENST00000673451.1:c.54G>A | ENSP00000500189.1:p.Lys18= | |
| ENST00000341594.9:c.23067G>A | ENSP00000341887.6:p.Lys7689= | |
| ENST00000347037.9:n.961G>A | ||
| ENST00000354674.4:c.747G>A | ENSP00000346701.4:p.Lys249= | |
| ENST00000367251.7:c.3048G>A | ENSP00000356220.3:p.Lys1016= | |
| ENST00000367255.9:c.24282G>A | ENSP00000356224.5:p.Lys8094= | |
| ENST00000367256.9:n.7974G>A | ||
| ENST00000367257.8:c.2220G>A | ENSP00000356226.4:p.Lys740= | |
| ENST00000409694.6:n.7866G>A | ||
| ENST00000423061.5:c.24069G>A | ENSP00000396024.1:p.Lys8023= | |
| ENST00000460912.6:n.827G>A | ||
| ENST00000476519.1:n.344G>A | ||
| ENST00000536990.5:n.1119G>A | ||
| ENST00000539504.5:c.747G>A | ENSP00000441052.1:p.Lys249= | |
| NM_033071.3:c.24069G>A | NP_149062.1:p.Lys8023= | |
| NM_182961.3:c.24282G>A | NP_892006.3:p.Lys8094= | |
| XM_006715407.1:c.24318G>A | XP_006715470.1:p.Lys8106= | |
| XM_006715408.1:c.24306G>A | XP_006715471.1:p.Lys8102= | |
| XM_006715409.1:c.24297G>A | XP_006715472.1:p.Lys8099= | |
| XM_006715410.1:c.24318G>A | XP_006715473.1:p.Lys8106= | |
| XM_006715411.1:c.24267G>A | XP_006715474.1:p.Lys8089= | |
| XM_006715412.1:c.24303G>A | XP_006715475.1:p.Lys8101= | |
| XM_006715413.1:c.24318G>A | XP_006715476.1:p.Lys8106= | |
| XM_006715414.1:c.24246G>A | XP_006715477.1:p.Lys8082= | |
| XM_006715415.1:c.24318G>A | XP_006715478.1:p.Lys8106= | |
| XM_006715416.1:c.24303G>A | XP_006715479.1:p.Lys8101= | |
| XM_006715417.1:c.24177G>A | XP_006715480.1:p.Lys8059= | |
| XM_006715420.1:c.24165G>A | XP_006715483.1:p.Lys8055= | |
| XM_006715421.1:c.24162G>A | XP_006715484.1:p.Lys8054= | |
| XM_006715422.1:c.24159G>A | XP_006715485.1:p.Lys8053= | |
| XM_006715423.1:c.24318G>A | XP_006715486.1:p.Lys8106= | |
| XM_006715424.1:c.24318G>A | XP_006715487.1:p.Lys8106= | |
| XM_006715425.1:c.24318G>A | XP_006715488.1:p.Lys8106= | |
| XM_011535641.1:c.24315G>A | XP_011533943.1:p.Lys8105= | |
| XM_011535642.1:c.24303G>A | XP_011533944.1:p.Lys8101= | |
| XM_011535643.1:c.24153G>A | XP_011533945.1:p.Lys8051= | |
| XM_011535644.1:c.22593G>A | XP_011533946.1:p.Lys7531= | |
| XM_011535645.1:c.22086G>A | XP_011533947.1:p.Lys7362= | |
| XM_011535647.1:c.17553G>A | XP_011533949.1:p.Lys5851= | |
| NM_001347701.1:c.888G>A | NP_001334630.1:p.Lys296= | |
| NM_001347702.1:c.747G>A | NP_001334631.1:p.Lys249= | |
| XM_006715408.2:c.24306G>A | XP_006715471.1:p.Lys8102= | |
| XM_006715410.2:c.24318G>A | XP_006715473.1:p.Lys8106= | |
| XM_006715412.2:c.24303G>A | XP_006715475.1:p.Lys8101= | |
| XM_006715413.2:c.24318G>A | XP_006715476.1:p.Lys8106= | |
| XM_006715415.2:c.24318G>A | XP_006715478.1:p.Lys8106= | |
| XM_006715416.2:c.24303G>A | XP_006715479.1:p.Lys8101= | |
| XM_006715417.2:c.24177G>A | XP_006715480.1:p.Lys8059= | |
| XM_006715420.2:c.24165G>A | XP_006715483.1:p.Lys8055= | |
| XM_006715421.2:c.24162G>A | XP_006715484.1:p.Lys8054= | |
| XM_006715423.2:c.24318G>A | XP_006715486.1:p.Lys8106= | |
| XM_006715424.2:c.24318G>A | XP_006715487.1:p.Lys8106= | |
| XM_006715425.2:c.24318G>A | XP_006715488.1:p.Lys8106= | |
| XM_011535641.2:c.24315G>A | XP_011533943.1:p.Lys8105= | |
| XM_011535642.2:c.24303G>A | XP_011533944.1:p.Lys8101= | |
| XM_011535645.2:c.22086G>A | XP_011533947.1:p.Lys7362= | |
| XM_017010608.1:c.24318G>A | XP_016866097.1:p.Lys8106= | |
| XM_017010609.1:c.24318G>A | XP_016866098.1:p.Lys8106= | |
| XM_017010610.1:c.24297G>A | XP_016866099.1:p.Lys8099= | |
| XM_017010611.2:c.24291G>A | XP_016866100.1:p.Lys8097= | |
| XM_017010612.1:c.24240G>A | XP_016866101.1:p.Lys8080= | |
| XM_017010613.1:c.24315G>A | XP_016866102.1:p.Lys8105= | |
| XM_017010614.1:c.24162G>A | XP_016866103.1:p.Lys8054= | |
| XM_017010615.1:c.24162G>A | XP_016866104.1:p.Lys8054= | |
| XM_017010616.1:c.24318G>A | XP_016866105.1:p.Lys8106= | |
| XM_017010617.1:c.24315G>A | XP_016866106.1:p.Lys8105= | |
| XM_017010618.1:c.24303G>A | XP_016866107.1:p.Lys8101= | |
| XM_017010619.1:c.22593G>A | XP_016866108.1:p.Lys7531= | |
| NM_182961.4:c.24282G>A MANE Select | NP_892006.3:p.Lys8094= | |
| NM_001347701.2:c.888G>A | NP_001334630.1:p.Lys296= | |
| NM_001347702.2:c.747G>A MANE Plus Clinical | NP_001334631.1:p.Lys249= | |
| NM_033071.5:c.24069G>A | NP_149062.2:p.Lys8023= |