Canonical Allele Identifier: CA3711547

Gene: HLA-B

Linked Data

• dbSNP Id: rs41553417
• ExAC: 6:31324039 C / A
• gnomAD v2: 6-31324039-C-A
• gnomAD v3: 6-31356262-C-A
• gnomAD v4: 6-31356262-C-A
• MyVariant Identifiers: chr6:g.31324039C>A (hg19) ; chr6:g.31324039_31324040delinsAG (hg19) ; chr6:g.31356262C>A (hg38) ; chr6:g.31356262_31356263delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356262C>A , CM000668.2:g.31356262C>A	GRCh38
NC_000006.11:g.31324039C>A , CM000668.1:g.31324039C>A	GRCh37
NC_000006.10:g.31432018C>A	NCBI36
NG_023187.1:g.5951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.1997G>T
ENST00000481849.6:n.1997G>T
ENST00000497377.6:n.1997G>T
ENST00000640094.2:c.524G>T	ENSP00000491275.2:p.Arg175Leu
ENST00000696558.1:c.524G>T	ENSP00000512716.1:p.Arg175Leu
ENST00000696559.1:c.524G>T	ENSP00000512717.1:p.Arg175Leu
ENST00000696560.1:c.524G>T	ENSP00000512718.1:p.Arg175Leu
ENST00000696561.1:c.524G>T	ENSP00000512719.1:p.Arg175Leu
ENST00000696562.1:c.524G>T	ENSP00000512720.1:p.Arg175Leu
ENST00000412585.7:c.524G>T MANE Select	ENSP00000399168.2:p.Arg175Leu
ENST00000412585.6:c.524G>T	ENSP00000399168.2:p.Arg175Leu
ENST00000434333.1:c.557G>T	ENSP00000405931.1:p.Arg186Leu
ENST00000474381.1:n.399G>T
ENST00000498007.1:n.790G>T
NM_005514.6:c.524G>T	NP_005505.2:p.Arg175Leu
XM_011514556.1:c.557G>T	XP_011512858.1:p.Arg186Leu
XM_011514557.1:c.524G>T	XP_011512859.1:p.Arg175Leu
XR_926175.1:n.534G>T
NM_005514.7:c.524G>T	NP_005505.2:p.Arg175Leu
NM_005514.8:c.524G>T MANE Select	NP_005505.2:p.Arg175Leu