Canonical Allele Identifier: CA363308220
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1355238690
gnomAD v3: 6-31354649-G-T
gnomAD v4: 6-31354649-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354649G>T , CM000668.2:g.31354649G>T GRCh38
NC_000006.11:g.31322426G>T , CM000668.1:g.31322426G>T GRCh37
NC_000006.10:g.31430405G>T NCBI36
NG_023187.1:g.7564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3076C>A
ENST00000481849.6:n.3036C>A
ENST00000497377.6:n.2943C>A
ENST00000640094.2:c.912C>A ENSP00000491275.2:p.Ser304Arg
ENST00000696558.1:c.1098C>A ENSP00000512716.1:n.1098C>A
ENST00000696559.1:c.1029C>A ENSP00000512717.1:p.Ser343Arg
ENST00000696560.1:c.1029C>A ENSP00000512718.1:p.Ser343Arg
ENST00000696561.1:c.1029C>A ENSP00000512719.1:p.Ser343Arg
ENST00000696562.1:c.1029C>A ENSP00000512720.1:p.Ser343Arg
ENST00000412585.7:c.1029C>A MANE Select ENSP00000399168.2:p.Ser343Arg
ENST00000640094.1:c.105C>A ENSP00000491275.1:p.Ser35Arg
ENST00000412585.6:c.1029C>A ENSP00000399168.2:p.Ser343Arg
ENST00000481849.5:n.158C>A
ENST00000497377.5:n.428C>A
NM_005514.6:c.1029C>A NP_005505.2:p.Ser343Arg
XM_011514556.1:c.1062C>A XP_011512858.1:p.Ser354Arg
XM_011514557.1:c.912C>A XP_011512859.1:p.Ser304Arg
XR_926175.1:n.1468C>A
NM_005514.7:c.1029C>A NP_005505.2:p.Ser343Arg
NM_005514.8:c.1029C>A MANE Select NP_005505.2:p.Ser343Arg