Canonical Allele Identifier: CA363308035
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1265181425
gnomAD v3: 6-31354524-T-C
gnomAD v4: 6-31354524-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354524T>C , CM000668.2:g.31354524T>C GRCh38
NC_000006.11:g.31322301T>C , CM000668.1:g.31322301T>C GRCh37
NC_000006.10:g.31430280T>C NCBI36
NG_023187.1:g.7689A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3095A>G
ENST00000481849.6:n.3055A>G
ENST00000497377.6:n.2962A>G
ENST00000640094.2:c.931A>G ENSP00000491275.2:p.Ser311Gly
ENST00000696558.1:c.1117A>G ENSP00000512716.1:n.1117A>G
ENST00000696559.1:c.1048A>G ENSP00000512717.1:p.Ser350Gly
ENST00000696560.1:c.1048A>G ENSP00000512718.1:p.Ser350Gly
ENST00000696561.1:c.1048A>G ENSP00000512719.1:p.Ser350Gly
ENST00000696562.1:c.1048A>G ENSP00000512720.1:p.Ser350Gly
ENST00000412585.7:c.1048A>G MANE Select ENSP00000399168.2:p.Ser350Gly
ENST00000640094.1:c.124A>G ENSP00000491275.1:p.Ser42Gly
ENST00000412585.6:c.1048A>G ENSP00000399168.2:p.Ser350Gly
ENST00000481849.5:n.283A>G
ENST00000497377.5:n.447A>G
NM_005514.6:c.1048A>G NP_005505.2:p.Ser350Gly
XM_011514556.1:c.1081A>G XP_011512858.1:p.Ser361Gly
XM_011514557.1:c.931A>G XP_011512859.1:p.Ser311Gly
XR_926175.1:n.1487A>G
NM_005514.7:c.1048A>G NP_005505.2:p.Ser350Gly
NM_005514.8:c.1048A>G MANE Select NP_005505.2:p.Ser350Gly