Canonical Allele Identifier: CA370317030

Gene: BLK

Linked Data

• gnomAD v4: 8-11564065-A-C
• MyVariant Identifiers: chr8:g.11421574A>C (hg19) ; chr8:g.11564065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564065A>C , CM000670.2:g.11564065A>C	GRCh38
NC_000008.10:g.11421574A>C , CM000670.1:g.11421574A>C	GRCh37
NC_000008.9:g.11458983A>C	NCBI36
NG_023543.1:g.75054A>C
NG_023543.2:g.75054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1583A>C
ENST00000696154.1:c.*793A>C	ENSP00000512445.1:n.*793A>C
ENST00000696155.1:n.359A>C
ENST00000259089.9:c.1475A>C MANE Select	ENSP00000259089.4:p.Asp492Ala
ENST00000645242.1:c.1262A>C	ENSP00000494690.1:p.Asp421Ala
ENST00000259089.8:c.1475A>C	ENSP00000259089.4:p.Asp492Ala
ENST00000526097.1:n.1415A>C
ENST00000529894.1:c.1262A>C	ENSP00000433663.1:p.Asp421Ala
NM_001715.2:c.1475A>C	NP_001706.2:p.Asp492Ala
XM_011543824.1:c.1553A>C	XP_011542126.1:p.Asp518Ala
XM_011543825.1:c.1553A>C	XP_011542127.1:p.Asp518Ala
XM_011543826.1:c.1553A>C	XP_011542128.1:p.Asp518Ala
XM_011543827.1:c.1340A>C	XP_011542129.1:p.Asp447Ala
NM_001330465.1:c.1262A>C	NP_001317394.1:p.Asp421Ala
XM_011543825.3:c.1553A>C	XP_011542127.1:p.Asp518Ala
NM_001715.3:c.1475A>C MANE Select	NP_001706.2:p.Asp492Ala
NM_001330465.2:c.1262A>C	NP_001317394.1:p.Asp421Ala