Canonical Allele Identifier: CA579799561

Gene: BLK

Linked Data

• dbSNP Id: rs1425117806
• gnomAD v2: 8-11422041-G-A
• gnomAD v4: 8-11564532-G-A
• MyVariant Identifiers: chr8:g.11422041G>A (hg19) ; chr8:g.11564532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564532G>A , CM000670.2:g.11564532G>A	GRCh38
NC_000008.10:g.11422041G>A , CM000670.1:g.11422041G>A	GRCh37
NC_000008.9:g.11459450G>A	NCBI36
NG_023543.1:g.75521G>A
NG_023543.2:g.75521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.2050G>A
ENST00000696154.1:c.*1260G>A	ENSP00000512445.1:n.*1260G>A
ENST00000259089.9:c.*424G>A MANE Select	ENSP00000259089.4:n.*424G>A
ENST00000645242.1:c.*424G>A	ENSP00000494690.1:n.*424G>A
ENST00000259089.8:c.*424G>A	ENSP00000259089.4:n.*424G>A
ENST00000526097.1:n.1882G>A
NM_001715.2:c.*424G>A	NP_001706.2:n.*424G>A
XM_011543824.1:c.*424G>A	XP_011542126.1:n.*424G>A
XM_011543825.1:c.*424G>A	XP_011542127.1:n.*424G>A
XM_011543826.1:c.*424G>A	XP_011542128.1:n.*424G>A
XM_011543827.1:c.*424G>A	XP_011542129.1:n.*424G>A
NM_001330465.1:c.*424G>A	NP_001317394.1:n.*424G>A
XM_011543825.3:c.*424G>A	XP_011542127.1:n.*424G>A
NM_001715.3:c.*424G>A MANE Select	NP_001706.2:n.*424G>A
NM_001330465.2:c.*424G>A	NP_001317394.1:n.*424G>A