Canonical Allele Identifier: CA363892427

Gene: HLA-B

Linked Data

• dbSNP Id: rs151341207
• gnomAD v3: 6-31356696-C-A
• gnomAD v4: 6-31356696-C-A
• COSMIC: COSM5710050
• MyVariant Identifiers: chr6:g.31324473C>A (hg19) ; chr6:g.31356696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356696C>A , CM000668.2:g.31356696C>A	GRCh38
NC_000006.11:g.31324473C>A , CM000668.1:g.31324473C>A	GRCh37
NC_000006.10:g.31432452C>A	NCBI36
NG_023187.1:g.5517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.1808G>T
ENST00000481849.6:n.1808G>T
ENST00000497377.6:n.1808G>T
ENST00000640094.2:c.335G>T	ENSP00000491275.2:p.Ser112Ile
ENST00000696558.1:c.335G>T	ENSP00000512716.1:p.Ser112Ile
ENST00000696559.1:c.335G>T	ENSP00000512717.1:p.Ser112Ile
ENST00000696560.1:c.335G>T	ENSP00000512718.1:p.Ser112Ile
ENST00000696561.1:c.335G>T	ENSP00000512719.1:p.Ser112Ile
ENST00000696562.1:c.335G>T	ENSP00000512720.1:p.Ser112Ile
ENST00000412585.7:c.335G>T MANE Select	ENSP00000399168.2:p.Ser112Ile
ENST00000412585.6:c.335G>T	ENSP00000399168.2:p.Ser112Ile
ENST00000434333.1:c.368G>T	ENSP00000405931.1:p.Ser123Ile
ENST00000474381.1:n.210G>T
ENST00000498007.1:n.356G>T
ENST00000603274.1:n.50C>A
NM_005514.6:c.335G>T	NP_005505.2:p.Ser112Ile
XM_011514556.1:c.368G>T	XP_011512858.1:p.Ser123Ile
XM_011514557.1:c.335G>T	XP_011512859.1:p.Ser112Ile
XR_926175.1:n.345G>T
NM_005514.7:c.335G>T	NP_005505.2:p.Ser112Ile
NM_005514.8:c.335G>T MANE Select	NP_005505.2:p.Ser112Ile