Canonical Allele Identifier: CA363308492
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1412940062
gnomAD v2: 6-31322898-C-A
gnomAD v3: 6-31355121-C-A
gnomAD v4: 6-31355121-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355121C>A , CM000668.2:g.31355121C>A GRCh38
NC_000006.11:g.31322898C>A , CM000668.1:g.31322898C>A GRCh37
NC_000006.10:g.31430877C>A NCBI36
NG_023187.1:g.7092G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3045G>T
ENST00000481849.6:n.2564G>T
ENST00000497377.6:n.2471G>T
ENST00000640094.2:c.895+196G>T ENSP00000491275.2:n.895+196G>T
ENST00000696558.1:c.1067G>T ENSP00000512716.1:n.1067G>T
ENST00000696559.1:c.998G>T ENSP00000512717.1:p.Arg333Met
ENST00000696560.1:c.998G>T ENSP00000512718.1:p.Arg333Met
ENST00000696561.1:c.998G>T ENSP00000512719.1:p.Arg333Met
ENST00000696562.1:c.998G>T ENSP00000512720.1:p.Arg333Met
ENST00000412585.7:c.998G>T MANE Select ENSP00000399168.2:p.Arg333Met
ENST00000640094.1:c.88+196G>T ENSP00000491275.1:n.88+196G>T
ENST00000412585.6:c.998G>T ENSP00000399168.2:p.Arg333Met
NM_005514.6:c.998G>T NP_005505.2:p.Arg333Met
XM_011514556.1:c.1031G>T XP_011512858.1:p.Arg344Met
XM_011514557.1:c.895+196G>T XP_011512859.1:n.895+196G>T
XR_926175.1:n.1437G>T
NM_005514.7:c.998G>T NP_005505.2:p.Arg333Met
NM_005514.8:c.998G>T MANE Select NP_005505.2:p.Arg333Met