Canonical Allele Identifier: CA3711340
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs767464110
gnomAD v2: 6-31323142-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355365A>G , CM000668.2:g.31355365A>G GRCh38
NC_000006.11:g.31323142A>G , CM000668.1:g.31323142A>G GRCh37
NC_000006.10:g.31431121A>G NCBI36
NG_023187.1:g.6848T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.2894T>C
ENST00000481849.6:n.2320T>C
ENST00000497377.6:n.2320T>C
ENST00000640094.2:c.847T>C ENSP00000491275.2:p.Cys283Arg
ENST00000696558.1:c.916T>C ENSP00000512716.1:n.916T>C
ENST00000696559.1:c.847T>C ENSP00000512717.1:p.Cys283Arg
ENST00000696560.1:c.847T>C ENSP00000512718.1:p.Cys283Arg
ENST00000696561.1:c.847T>C ENSP00000512719.1:p.Cys283Arg
ENST00000696562.1:c.847T>C ENSP00000512720.1:p.Cys283Arg
ENST00000412585.7:c.847T>C MANE Select ENSP00000399168.2:p.Cys283Arg
ENST00000640094.1:c.40T>C ENSP00000491275.1:p.Cys14Arg
ENST00000412585.6:c.847T>C ENSP00000399168.2:p.Cys283Arg
ENST00000463574.1:n.438T>C
NM_005514.6:c.847T>C NP_005505.2:p.Cys283Arg
XM_011514556.1:c.880T>C XP_011512858.1:p.Cys294Arg
XM_011514557.1:c.847T>C XP_011512859.1:p.Cys283Arg
XR_926175.1:n.1286T>C
NM_005514.7:c.847T>C NP_005505.2:p.Cys283Arg
NM_005514.8:c.847T>C MANE Select NP_005505.2:p.Cys283Arg