Canonical Allele Identifier: CA172096008

Gene: BLK

Linked Data

• dbSNP Id: rs536936189
• gnomAD v2: 8-11422110-C-G
• gnomAD v3: 8-11564601-C-G
• gnomAD v4: 8-11564601-C-G
• MyVariant Identifiers: chr8:g.11422110C>G (hg19) ; chr8:g.11564601C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564601C>G , CM000670.2:g.11564601C>G	GRCh38
NC_000008.10:g.11422110C>G , CM000670.1:g.11422110C>G	GRCh37
NC_000008.9:g.11459519C>G	NCBI36
NG_023543.1:g.75590C>G
NG_023543.2:g.75590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259089.8:c.*493C>G	ENSP00000259089.4:n.*493C>G
NM_001330465.1:c.*493C>G	NP_001317394.1:n.*493C>G