Canonical Allele Identifier: CA459320824

Gene: BLK

Linked Data

• gnomAD v4: 8-11563979-G-A
• MyVariant Identifiers: chr8:g.11421488G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563979G>A , CM000670.2:g.11563979G>A	GRCh38
NC_000008.10:g.11421488G>A , CM000670.1:g.11421488G>A	GRCh37
NC_000008.9:g.11458897G>A	NCBI36
NG_023543.1:g.74968G>A
NG_023543.2:g.74968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1497G>A
ENST00000696154.1:c.*707G>A	ENSP00000512445.1:n.*707G>A
ENST00000696155.1:n.273G>A
ENST00000259089.9:c.1389G>A MANE Select	ENSP00000259089.4:p.Glu463=
ENST00000645242.1:c.1176G>A	ENSP00000494690.1:p.Glu392=
ENST00000259089.8:c.1389G>A	ENSP00000259089.4:p.Glu463=
ENST00000526097.1:n.1329G>A
ENST00000529894.1:c.1176G>A	ENSP00000433663.1:p.Glu392=
NM_001715.2:c.1389G>A	NP_001706.2:p.Glu463=
XM_011543824.1:c.1467G>A	XP_011542126.1:p.Glu489=
XM_011543825.1:c.1467G>A	XP_011542127.1:p.Glu489=
XM_011543826.1:c.1467G>A	XP_011542128.1:p.Glu489=
XM_011543827.1:c.1254G>A	XP_011542129.1:p.Glu418=
NM_001330465.1:c.1176G>A	NP_001317394.1:p.Glu392=
XM_011543825.3:c.1467G>A	XP_011542127.1:p.Glu489=
NM_001715.3:c.1389G>A MANE Select	NP_001706.2:p.Glu463=
NM_001330465.2:c.1176G>A	NP_001317394.1:p.Glu392=