Canonical Allele Identifier: CA370316858

Gene: BLK

Linked Data

• dbSNP Id: rs1307933999
• gnomAD v2: 8-11421520-G-A
• gnomAD v4: 8-11564011-G-A
• MyVariant Identifiers: chr8:g.11421520G>A (hg19) ; chr8:g.11564011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564011G>A , CM000670.2:g.11564011G>A	GRCh38
NC_000008.10:g.11421520G>A , CM000670.1:g.11421520G>A	GRCh37
NC_000008.9:g.11458929G>A	NCBI36
NG_023543.1:g.75000G>A
NG_023543.2:g.75000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1529G>A
ENST00000696154.1:c.*739G>A	ENSP00000512445.1:n.*739G>A
ENST00000696155.1:n.305G>A
ENST00000259089.9:c.1421G>A MANE Select	ENSP00000259089.4:p.Arg474His
ENST00000645242.1:c.1208G>A	ENSP00000494690.1:p.Arg403His
ENST00000259089.8:c.1421G>A	ENSP00000259089.4:p.Arg474His
ENST00000526097.1:n.1361G>A
ENST00000529894.1:c.1208G>A	ENSP00000433663.1:p.Arg403His
NM_001715.2:c.1421G>A	NP_001706.2:p.Arg474His
XM_011543824.1:c.1499G>A	XP_011542126.1:p.Arg500His
XM_011543825.1:c.1499G>A	XP_011542127.1:p.Arg500His
XM_011543826.1:c.1499G>A	XP_011542128.1:p.Arg500His
XM_011543827.1:c.1286G>A	XP_011542129.1:p.Arg429His
NM_001330465.1:c.1208G>A	NP_001317394.1:p.Arg403His
XM_011543825.3:c.1499G>A	XP_011542127.1:p.Arg500His
NM_001715.3:c.1421G>A MANE Select	NP_001706.2:p.Arg474His
NM_001330465.2:c.1208G>A	NP_001317394.1:p.Arg403His