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.152151994G>C , CM000668.2:g.152151994G>C | GRCh38 |
| NC_000006.11:g.152473129G>C , CM000668.1:g.152473129G>C | GRCh37 |
| NC_000006.10:g.152514822G>C | NCBI36 |
| NG_012855.1:g.490406C>G | |
| NG_012855.2:g.490406C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.742C>G MANE Plus Clinical | ENSP00000346701.4:p.Gln248Glu | |
| ENST00000367255.10:c.24277C>G MANE Select | ENSP00000356224.5:p.Gln8093Glu | |
| ENST00000423061.6:c.24064C>G | ENSP00000396024.1:p.Gln8022Glu | |
| ENST00000672169.1:c.12C>G | ||
| ENST00000673173.1:c.191C>G | ||
| ENST00000673451.1:c.49C>G | ENSP00000500189.1:p.Gln17Glu | |
| ENST00000341594.9:c.23062C>G | ENSP00000341887.6:p.Gln7688Glu | |
| ENST00000347037.9:n.956C>G | ||
| ENST00000354674.4:c.742C>G | ENSP00000346701.4:p.Gln248Glu | |
| ENST00000367251.7:c.3043C>G | ENSP00000356220.3:p.Gln1015Glu | |
| ENST00000367255.9:c.24277C>G | ENSP00000356224.5:p.Gln8093Glu | |
| ENST00000367256.9:n.7969C>G | ||
| ENST00000367257.8:c.2215C>G | ENSP00000356226.4:p.Gln739Glu | |
| ENST00000409694.6:n.7861C>G | ||
| ENST00000423061.5:c.24064C>G | ENSP00000396024.1:p.Gln8022Glu | |
| ENST00000460912.6:n.822C>G | ||
| ENST00000476519.1:n.339C>G | ||
| ENST00000536990.5:n.1114C>G | ||
| ENST00000539504.5:c.742C>G | ENSP00000441052.1:p.Gln248Glu | |
| NM_033071.3:c.24064C>G | NP_149062.1:p.Gln8022Glu | |
| NM_182961.3:c.24277C>G | NP_892006.3:p.Gln8093Glu | |
| XM_006715407.1:c.24313C>G | XP_006715470.1:p.Gln8105Glu | |
| XM_006715408.1:c.24301C>G | XP_006715471.1:p.Gln8101Glu | |
| XM_006715409.1:c.24292C>G | XP_006715472.1:p.Gln8098Glu | |
| XM_006715410.1:c.24313C>G | XP_006715473.1:p.Gln8105Glu | |
| XM_006715411.1:c.24262C>G | XP_006715474.1:p.Gln8088Glu | |
| XM_006715412.1:c.24298C>G | XP_006715475.1:p.Gln8100Glu | |
| XM_006715413.1:c.24313C>G | XP_006715476.1:p.Gln8105Glu | |
| XM_006715414.1:c.24241C>G | XP_006715477.1:p.Gln8081Glu | |
| XM_006715415.1:c.24313C>G | XP_006715478.1:p.Gln8105Glu | |
| XM_006715416.1:c.24298C>G | XP_006715479.1:p.Gln8100Glu | |
| XM_006715417.1:c.24172C>G | XP_006715480.1:p.Gln8058Glu | |
| XM_006715420.1:c.24160C>G | XP_006715483.1:p.Gln8054Glu | |
| XM_006715421.1:c.24157C>G | XP_006715484.1:p.Gln8053Glu | |
| XM_006715422.1:c.24154C>G | XP_006715485.1:p.Gln8052Glu | |
| XM_006715423.1:c.24313C>G | XP_006715486.1:p.Gln8105Glu | |
| XM_006715424.1:c.24313C>G | XP_006715487.1:p.Gln8105Glu | |
| XM_006715425.1:c.24313C>G | XP_006715488.1:p.Gln8105Glu | |
| XM_011535641.1:c.24310C>G | XP_011533943.1:p.Gln8104Glu | |
| XM_011535642.1:c.24298C>G | XP_011533944.1:p.Gln8100Glu | |
| XM_011535643.1:c.24148C>G | XP_011533945.1:p.Gln8050Glu | |
| XM_011535644.1:c.22588C>G | XP_011533946.1:p.Gln7530Glu | |
| XM_011535645.1:c.22081C>G | XP_011533947.1:p.Gln7361Glu | |
| XM_011535647.1:c.17548C>G | XP_011533949.1:p.Gln5850Glu | |
| NM_001347701.1:c.883C>G | NP_001334630.1:p.Gln295Glu | |
| NM_001347702.1:c.742C>G | NP_001334631.1:p.Gln248Glu | |
| XM_006715408.2:c.24301C>G | XP_006715471.1:p.Gln8101Glu | |
| XM_006715410.2:c.24313C>G | XP_006715473.1:p.Gln8105Glu | |
| XM_006715412.2:c.24298C>G | XP_006715475.1:p.Gln8100Glu | |
| XM_006715413.2:c.24313C>G | XP_006715476.1:p.Gln8105Glu | |
| XM_006715415.2:c.24313C>G | XP_006715478.1:p.Gln8105Glu | |
| XM_006715416.2:c.24298C>G | XP_006715479.1:p.Gln8100Glu | |
| XM_006715417.2:c.24172C>G | XP_006715480.1:p.Gln8058Glu | |
| XM_006715420.2:c.24160C>G | XP_006715483.1:p.Gln8054Glu | |
| XM_006715421.2:c.24157C>G | XP_006715484.1:p.Gln8053Glu | |
| XM_006715423.2:c.24313C>G | XP_006715486.1:p.Gln8105Glu | |
| XM_006715424.2:c.24313C>G | XP_006715487.1:p.Gln8105Glu | |
| XM_006715425.2:c.24313C>G | XP_006715488.1:p.Gln8105Glu | |
| XM_011535641.2:c.24310C>G | XP_011533943.1:p.Gln8104Glu | |
| XM_011535642.2:c.24298C>G | XP_011533944.1:p.Gln8100Glu | |
| XM_011535645.2:c.22081C>G | XP_011533947.1:p.Gln7361Glu | |
| XM_017010608.1:c.24313C>G | XP_016866097.1:p.Gln8105Glu | |
| XM_017010609.1:c.24313C>G | XP_016866098.1:p.Gln8105Glu | |
| XM_017010610.1:c.24292C>G | XP_016866099.1:p.Gln8098Glu | |
| XM_017010611.2:c.24286C>G | XP_016866100.1:p.Gln8096Glu | |
| XM_017010612.1:c.24235C>G | XP_016866101.1:p.Gln8079Glu | |
| XM_017010613.1:c.24310C>G | XP_016866102.1:p.Gln8104Glu | |
| XM_017010614.1:c.24157C>G | XP_016866103.1:p.Gln8053Glu | |
| XM_017010615.1:c.24157C>G | XP_016866104.1:p.Gln8053Glu | |
| XM_017010616.1:c.24313C>G | XP_016866105.1:p.Gln8105Glu | |
| XM_017010617.1:c.24310C>G | XP_016866106.1:p.Gln8104Glu | |
| XM_017010618.1:c.24298C>G | XP_016866107.1:p.Gln8100Glu | |
| XM_017010619.1:c.22588C>G | XP_016866108.1:p.Gln7530Glu | |
| NM_182961.4:c.24277C>G MANE Select | NP_892006.3:p.Gln8093Glu | |
| NM_001347701.2:c.883C>G | NP_001334630.1:p.Gln295Glu | |
| NM_001347702.2:c.742C>G MANE Plus Clinical | NP_001334631.1:p.Gln248Glu | |
| NM_033071.5:c.24064C>G | NP_149062.2:p.Gln8022Glu |