Canonical Allele Identifier: CA3711179
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs569814975
gnomAD v2: 6-31322299-G-A
gnomAD v3: 6-31354522-G-A
gnomAD v4: 6-31354522-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354522G>A , CM000668.2:g.31354522G>A GRCh38
NC_000006.11:g.31322299G>A , CM000668.1:g.31322299G>A GRCh37
NC_000006.10:g.31430278G>A NCBI36
NG_023187.1:g.7691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3097C>T
ENST00000481849.6:n.3057C>T
ENST00000497377.6:n.2964C>T
ENST00000640094.2:c.933C>T ENSP00000491275.2:p.Ser311=
ENST00000696558.1:c.1119C>T ENSP00000512716.1:n.1119C>T
ENST00000696559.1:c.1050C>T ENSP00000512717.1:p.Ser350=
ENST00000696560.1:c.1050C>T ENSP00000512718.1:p.Ser350=
ENST00000696561.1:c.1050C>T ENSP00000512719.1:p.Ser350=
ENST00000696562.1:c.1050C>T ENSP00000512720.1:p.Ser350=
ENST00000412585.7:c.1050C>T MANE Select ENSP00000399168.2:p.Ser350=
ENST00000640094.1:c.126C>T ENSP00000491275.1:p.Ser42=
ENST00000412585.6:c.1050C>T ENSP00000399168.2:p.Ser350=
ENST00000481849.5:n.285C>T
ENST00000497377.5:n.449C>T
NM_005514.6:c.1050C>T NP_005505.2:p.Ser350=
XM_011514556.1:c.1083C>T XP_011512858.1:p.Ser361=
XM_011514557.1:c.933C>T XP_011512859.1:p.Ser311=
XR_926175.1:n.1489C>T
NM_005514.7:c.1050C>T NP_005505.2:p.Ser350=
NM_005514.8:c.1050C>T MANE Select NP_005505.2:p.Ser350=