Canonical Allele Identifier: CA449601248
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs2113735116
gnomAD v3: 6-31355135-A-C
gnomAD v4: 6-31355135-A-C
MyVariant Identifiers: chr6:g.31322912A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355135A>C , CM000668.2:g.31355135A>C GRCh38
NC_000006.11:g.31322912A>C , CM000668.1:g.31322912A>C GRCh37
NC_000006.10:g.31430891A>C NCBI36
NG_023187.1:g.7078T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.3031T>G
ENST00000481849.6:n.2550T>G
ENST00000497377.6:n.2457T>G
ENST00000640094.2:c.895+182T>G ENSP00000491275.2:n.895+182T>G
ENST00000696558.1:c.1053T>G ENSP00000512716.1:n.1053T>G
ENST00000696559.1:c.984T>G ENSP00000512717.1:p.Ala328=
ENST00000696560.1:c.984T>G ENSP00000512718.1:p.Ala328=
ENST00000696561.1:c.984T>G ENSP00000512719.1:p.Ala328=
ENST00000696562.1:c.984T>G ENSP00000512720.1:p.Ala328=
ENST00000412585.7:c.984T>G MANE Select ENSP00000399168.2:p.Ala328=
ENST00000640094.1:c.88+182T>G ENSP00000491275.1:n.88+182T>G
ENST00000412585.6:c.984T>G ENSP00000399168.2:p.Ala328=
ENST00000463574.1:n.575T>G
NM_005514.6:c.984T>G NP_005505.2:p.Ala328=
XM_011514556.1:c.1017T>G XP_011512858.1:p.Ala339=
XM_011514557.1:c.895+182T>G XP_011512859.1:n.895+182T>G
XR_926175.1:n.1423T>G
NM_005514.7:c.984T>G NP_005505.2:p.Ala328=
NM_005514.8:c.984T>G MANE Select NP_005505.2:p.Ala328=