Canonical Allele Identifier: CA449601301

Gene: HLA-B

Linked Data

• dbSNP Id: rs1242913363
• gnomAD v2: 6-31322969-C-T
• gnomAD v3: 6-31355192-C-T
• gnomAD v4: 6-31355192-C-T
• MyVariant Identifiers: chr6:g.31322969C>T (hg19) ; chr6:g.31355192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31355192C>T , CM000668.2:g.31355192C>T	GRCh38
NC_000006.11:g.31322969C>T , CM000668.1:g.31322969C>T	GRCh37
NC_000006.10:g.31430948C>T	NCBI36
NG_023187.1:g.7021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.2974G>A
ENST00000481849.6:n.2493G>A
ENST00000497377.6:n.2400G>A
ENST00000640094.2:c.895+125G>A	ENSP00000491275.2:n.895+125G>A
ENST00000696558.1:c.996G>A	ENSP00000512716.1:n.996G>A
ENST00000696559.1:c.927G>A	ENSP00000512717.1:p.Val309=
ENST00000696560.1:c.927G>A	ENSP00000512718.1:p.Val309=
ENST00000696561.1:c.927G>A	ENSP00000512719.1:p.Val309=
ENST00000696562.1:c.927G>A	ENSP00000512720.1:p.Val309=
ENST00000412585.7:c.927G>A MANE Select	ENSP00000399168.2:p.Val309=
ENST00000640094.1:c.88+125G>A	ENSP00000491275.1:n.88+125G>A
ENST00000412585.6:c.927G>A	ENSP00000399168.2:p.Val309=
ENST00000463574.1:n.518G>A
NM_005514.6:c.927G>A	NP_005505.2:p.Val309=
XM_011514556.1:c.960G>A	XP_011512858.1:p.Val320=
XM_011514557.1:c.895+125G>A	XP_011512859.1:n.895+125G>A
XR_926175.1:n.1366G>A
NM_005514.7:c.927G>A	NP_005505.2:p.Val309=
NM_005514.8:c.927G>A MANE Select	NP_005505.2:p.Val309=