Canonical Allele Identifier: CA136832024
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs976122475
gnomAD v2: 6-31322434-C-T
gnomAD v4: 6-31354657-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354657C>T , CM000668.2:g.31354657C>T GRCh38
NC_000006.11:g.31322434C>T , CM000668.1:g.31322434C>T GRCh37
NC_000006.10:g.31430413C>T NCBI36
NG_023187.1:g.7556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3068G>A
ENST00000481849.6:n.3028G>A
ENST00000497377.6:n.2935G>A
ENST00000640094.2:c.904G>A ENSP00000491275.2:p.Gly302Arg
ENST00000696558.1:c.1090G>A ENSP00000512716.1:n.1090G>A
ENST00000696559.1:c.1021G>A ENSP00000512717.1:p.Gly341Arg
ENST00000696560.1:c.1021G>A ENSP00000512718.1:p.Gly341Arg
ENST00000696561.1:c.1021G>A ENSP00000512719.1:p.Gly341Arg
ENST00000696562.1:c.1021G>A ENSP00000512720.1:p.Gly341Arg
ENST00000412585.7:c.1021G>A MANE Select ENSP00000399168.2:p.Gly341Arg
ENST00000640094.1:c.97G>A ENSP00000491275.1:p.Gly33Arg
ENST00000412585.6:c.1021G>A ENSP00000399168.2:p.Gly341Arg
ENST00000481849.5:n.150G>A
ENST00000497377.5:n.420G>A
NM_005514.6:c.1021G>A NP_005505.2:p.Gly341Arg
XM_011514556.1:c.1054G>A XP_011512858.1:p.Gly352Arg
XM_011514557.1:c.904G>A XP_011512859.1:p.Gly302Arg
XR_926175.1:n.1460G>A
NM_005514.7:c.1021G>A NP_005505.2:p.Gly341Arg
NM_005514.8:c.1021G>A MANE Select NP_005505.2:p.Gly341Arg