Canonical Allele Identifier: CA172095606

Gene: BLK

Linked Data

• dbSNP Id: rs544282480
• gnomAD v3: 8-11564255-G-A
• gnomAD v4: 8-11564255-G-A
• MyVariant Identifiers: chr8:g.11421764G>A (hg19) ; chr8:g.11564255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564255G>A , CM000670.2:g.11564255G>A	GRCh38
NC_000008.10:g.11421764G>A , CM000670.1:g.11421764G>A	GRCh37
NC_000008.9:g.11459173G>A	NCBI36
NG_023543.1:g.75244G>A
NG_023543.2:g.75244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1773G>A
ENST00000696154.1:c.*983G>A	ENSP00000512445.1:n.*983G>A
ENST00000696155.1:n.549G>A
ENST00000259089.9:c.*147G>A MANE Select	ENSP00000259089.4:n.*147G>A
ENST00000645242.1:c.*147G>A	ENSP00000494690.1:n.*147G>A
ENST00000259089.8:c.*147G>A	ENSP00000259089.4:n.*147G>A
ENST00000526097.1:n.1605G>A
ENST00000529894.1:c.*147G>A	ENSP00000433663.1:n.*147G>A
NM_001715.2:c.*147G>A	NP_001706.2:n.*147G>A
XM_011543824.1:c.*147G>A	XP_011542126.1:n.*147G>A
XM_011543825.1:c.*147G>A	XP_011542127.1:n.*147G>A
XM_011543826.1:c.*147G>A	XP_011542128.1:n.*147G>A
XM_011543827.1:c.*147G>A	XP_011542129.1:n.*147G>A
NM_001330465.1:c.*147G>A	NP_001317394.1:n.*147G>A
XM_011543825.3:c.*147G>A	XP_011542127.1:n.*147G>A
NM_001715.3:c.*147G>A MANE Select	NP_001706.2:n.*147G>A
NM_001330465.2:c.*147G>A	NP_001317394.1:n.*147G>A