Canonical Allele Identifier: CA370311465

Gene: BLK

Linked Data

• gnomAD v4: 8-11548047-T-A
• MyVariant Identifiers: chr8:g.11405556T>A (hg19) ; chr8:g.11548047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548047T>A , CM000670.2:g.11548047T>A	GRCh38
NC_000008.10:g.11405556T>A , CM000670.1:g.11405556T>A	GRCh37
NC_000008.9:g.11442965T>A	NCBI36
NG_023543.1:g.59036T>A
NG_023543.2:g.59036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.342T>A
ENST00000696154.1:c.-23T>A	ENSP00000512445.1:n.-23T>A
ENST00000259089.9:c.191T>A MANE Select	ENSP00000259089.4:p.Val64Glu
ENST00000645242.1:c.-23T>A	ENSP00000494690.1:n.-23T>A
ENST00000259089.8:c.191T>A	ENSP00000259089.4:p.Val64Glu
ENST00000529894.1:c.-23T>A	ENSP00000433663.1:n.-23T>A
ENST00000533828.1:n.389T>A
NM_001715.2:c.191T>A	NP_001706.2:p.Val64Glu
XM_011543824.1:c.191T>A	XP_011542126.1:p.Val64Glu
XM_011543825.1:c.191T>A	XP_011542127.1:p.Val64Glu
XM_011543826.1:c.191T>A	XP_011542128.1:p.Val64Glu
XM_011543827.1:c.-23T>A	XP_011542129.1:n.-23T>A
XM_011543828.1:c.191T>A	XP_011542130.1:p.Val64Glu
XM_011543829.1:c.191T>A	XP_011542131.1:p.Val64Glu
NM_001330465.1:c.-23T>A	NP_001317394.1:n.-23T>A
XM_011543825.3:c.191T>A	XP_011542127.1:p.Val64Glu
XM_011543828.3:c.191T>A	XP_011542130.1:p.Val64Glu
XM_011543829.3:c.191T>A	XP_011542131.1:p.Val64Glu
NM_001715.3:c.191T>A MANE Select	NP_001706.2:p.Val64Glu
NM_001330465.2:c.-23T>A	NP_001317394.1:n.-23T>A