Canonical Allele Identifier: CA449790542

Gene: HLA-B

Linked Data

• dbSNP Id: rs1253351914
• gnomAD v2: 6-31323121-G-A
• gnomAD v3: 6-31355344-G-A
• gnomAD v4: 6-31355344-G-A
• MyVariant Identifiers: chr6:g.31323121G>A (hg19) ; chr6:g.31355344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31355344G>A , CM000668.2:g.31355344G>A	GRCh38
NC_000006.11:g.31323121G>A , CM000668.1:g.31323121G>A	GRCh37
NC_000006.10:g.31431100G>A	NCBI36
NG_023187.1:g.6869C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.2915C>T
ENST00000481849.6:n.2341C>T
ENST00000497377.6:n.2341C>T
ENST00000640094.2:c.868C>T	ENSP00000491275.2:p.Leu290=
ENST00000696558.1:c.937C>T	ENSP00000512716.1:n.937C>T
ENST00000696559.1:c.868C>T	ENSP00000512717.1:p.Leu290=
ENST00000696560.1:c.868C>T	ENSP00000512718.1:p.Leu290=
ENST00000696561.1:c.868C>T	ENSP00000512719.1:p.Leu290=
ENST00000696562.1:c.868C>T	ENSP00000512720.1:p.Leu290=
ENST00000412585.7:c.868C>T MANE Select	ENSP00000399168.2:p.Leu290=
ENST00000640094.1:c.61C>T	ENSP00000491275.1:p.Leu21=
ENST00000412585.6:c.868C>T	ENSP00000399168.2:p.Leu290=
ENST00000463574.1:n.459C>T
NM_005514.6:c.868C>T	NP_005505.2:p.Leu290=
XM_011514556.1:c.901C>T	XP_011512858.1:p.Leu301=
XM_011514557.1:c.868C>T	XP_011512859.1:p.Leu290=
XR_926175.1:n.1307C>T
NM_005514.7:c.868C>T	NP_005505.2:p.Leu290=
NM_005514.8:c.868C>T MANE Select	NP_005505.2:p.Leu290=