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.152151988G= , CM000668.2:g.152151988G= | GRCh38 |
| NC_000006.11:g.152473123G= , CM000668.1:g.152473123G= | GRCh37 |
| NC_000006.10:g.152514816G= | NCBI36 |
| NG_012855.1:g.490412C= | |
| NG_012855.2:g.490412C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.748C= MANE Plus Clinical | ENSP00000346701.4:p.Arg250= | |
| ENST00000367255.10:c.24283C= MANE Select | ENSP00000356224.5:p.Arg8095= | |
| ENST00000423061.6:c.24070C= | ENSP00000396024.1:p.Arg8024= | |
| ENST00000672169.1:c.18C= | ||
| ENST00000673173.1:c.197C= | ||
| ENST00000673451.1:c.55C= | ENSP00000500189.1:p.Arg19= | |
| ENST00000341594.9:c.23068C= | ENSP00000341887.6:p.Arg7690= | |
| ENST00000347037.9:n.962C= | ||
| ENST00000354674.4:c.748C= | ENSP00000346701.4:p.Arg250= | |
| ENST00000367251.7:c.3049C= | ENSP00000356220.3:p.Arg1017= | |
| ENST00000367255.9:c.24283C= | ENSP00000356224.5:p.Arg8095= | |
| ENST00000367256.9:n.7975C= | ||
| ENST00000367257.8:c.2221C= | ENSP00000356226.4:p.Arg741= | |
| ENST00000409694.6:n.7867C= | ||
| ENST00000423061.5:c.24070C= | ENSP00000396024.1:p.Arg8024= | |
| ENST00000460912.6:n.828C= | ||
| ENST00000476519.1:n.345C= | ||
| ENST00000536990.5:n.1120C= | ||
| ENST00000539504.5:c.748C= | ENSP00000441052.1:p.Arg250= | |
| NM_033071.3:c.24070C= | NP_149062.1:p.Arg8024= | |
| NM_182961.3:c.24283C= | NP_892006.3:p.Arg8095= | |
| XM_006715407.1:c.24319C= | XP_006715470.1:p.Arg8107= | |
| XM_006715408.1:c.24307C= | XP_006715471.1:p.Arg8103= | |
| XM_006715409.1:c.24298C= | XP_006715472.1:p.Arg8100= | |
| XM_006715410.1:c.24319C= | XP_006715473.1:p.Arg8107= | |
| XM_006715411.1:c.24268C= | XP_006715474.1:p.Arg8090= | |
| XM_006715412.1:c.24304C= | XP_006715475.1:p.Arg8102= | |
| XM_006715413.1:c.24319C= | XP_006715476.1:p.Arg8107= | |
| XM_006715414.1:c.24247C= | XP_006715477.1:p.Arg8083= | |
| XM_006715415.1:c.24319C= | XP_006715478.1:p.Arg8107= | |
| XM_006715416.1:c.24304C= | XP_006715479.1:p.Arg8102= | |
| XM_006715417.1:c.24178C= | XP_006715480.1:p.Arg8060= | |
| XM_006715420.1:c.24166C= | XP_006715483.1:p.Arg8056= | |
| XM_006715421.1:c.24163C= | XP_006715484.1:p.Arg8055= | |
| XM_006715422.1:c.24160C= | XP_006715485.1:p.Arg8054= | |
| XM_006715423.1:c.24319C= | XP_006715486.1:p.Arg8107= | |
| XM_006715424.1:c.24319C= | XP_006715487.1:p.Arg8107= | |
| XM_006715425.1:c.24319C= | XP_006715488.1:p.Arg8107= | |
| XM_011535641.1:c.24316C= | XP_011533943.1:p.Arg8106= | |
| XM_011535642.1:c.24304C= | XP_011533944.1:p.Arg8102= | |
| XM_011535643.1:c.24154C= | XP_011533945.1:p.Arg8052= | |
| XM_011535644.1:c.22594C= | XP_011533946.1:p.Arg7532= | |
| XM_011535645.1:c.22087C= | XP_011533947.1:p.Arg7363= | |
| XM_011535647.1:c.17554C= | XP_011533949.1:p.Arg5852= | |
| NM_001347701.1:c.889C= | NP_001334630.1:p.Arg297= | |
| NM_001347702.1:c.748C= | NP_001334631.1:p.Arg250= | |
| XM_006715408.2:c.24307C= | XP_006715471.1:p.Arg8103= | |
| XM_006715410.2:c.24319C= | XP_006715473.1:p.Arg8107= | |
| XM_006715412.2:c.24304C= | XP_006715475.1:p.Arg8102= | |
| XM_006715413.2:c.24319C= | XP_006715476.1:p.Arg8107= | |
| XM_006715415.2:c.24319C= | XP_006715478.1:p.Arg8107= | |
| XM_006715416.2:c.24304C= | XP_006715479.1:p.Arg8102= | |
| XM_006715417.2:c.24178C= | XP_006715480.1:p.Arg8060= | |
| XM_006715420.2:c.24166C= | XP_006715483.1:p.Arg8056= | |
| XM_006715421.2:c.24163C= | XP_006715484.1:p.Arg8055= | |
| XM_006715423.2:c.24319C= | XP_006715486.1:p.Arg8107= | |
| XM_006715424.2:c.24319C= | XP_006715487.1:p.Arg8107= | |
| XM_006715425.2:c.24319C= | XP_006715488.1:p.Arg8107= | |
| XM_011535641.2:c.24316C= | XP_011533943.1:p.Arg8106= | |
| XM_011535642.2:c.24304C= | XP_011533944.1:p.Arg8102= | |
| XM_011535645.2:c.22087C= | XP_011533947.1:p.Arg7363= | |
| XM_017010608.1:c.24319C= | XP_016866097.1:p.Arg8107= | |
| XM_017010609.1:c.24319C= | XP_016866098.1:p.Arg8107= | |
| XM_017010610.1:c.24298C= | XP_016866099.1:p.Arg8100= | |
| XM_017010611.2:c.24292C= | XP_016866100.1:p.Arg8098= | |
| XM_017010612.1:c.24241C= | XP_016866101.1:p.Arg8081= | |
| XM_017010613.1:c.24316C= | XP_016866102.1:p.Arg8106= | |
| XM_017010614.1:c.24163C= | XP_016866103.1:p.Arg8055= | |
| XM_017010615.1:c.24163C= | XP_016866104.1:p.Arg8055= | |
| XM_017010616.1:c.24319C= | XP_016866105.1:p.Arg8107= | |
| XM_017010617.1:c.24316C= | XP_016866106.1:p.Arg8106= | |
| XM_017010618.1:c.24304C= | XP_016866107.1:p.Arg8102= | |
| XM_017010619.1:c.22594C= | XP_016866108.1:p.Arg7532= | |
| NM_182961.4:c.24283C= MANE Select | NP_892006.3:p.Arg8095= | |
| NM_001347701.2:c.889C= | NP_001334630.1:p.Arg297= | |
| NM_001347702.2:c.748C= MANE Plus Clinical | NP_001334631.1:p.Arg250= | |
| NM_033071.5:c.24070C= | NP_149062.2:p.Arg8024= |