Canonical Allele Identifier: CA4630493

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563939G>A , CM000670.2:g.11563939G>A	GRCh38
NC_000008.10:g.11421448G>A , CM000670.1:g.11421448G>A	GRCh37
NC_000008.9:g.11458857G>A	NCBI36
NG_023543.1:g.74928G>A
NG_023543.2:g.74928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.1349G>A MANE Select	NP_001706.2:p.Arg450His
ENST00000259089.9:c.1349G>A MANE Select	ENSP00000259089.4:p.Arg450His
NM_001330465.1:c.1136G>A	NP_001317394.1:p.Arg379His
NM_001330465.2:c.1136G>A	NP_001317394.1:p.Arg379His
NM_001715.2:c.1349G>A	NP_001706.2:p.Arg450His
ENST00000259089.8:c.1349G>A	ENSP00000259089.4:p.Arg450His
ENST00000526097.1:n.1289G>A
ENST00000529894.1:c.1136G>A	ENSP00000433663.1:p.Arg379His
ENST00000645242.1:c.1136G>A	ENSP00000494690.1:p.Arg379His
ENST00000696154.1:c.*667G>A	ENSP00000512445.1:n.*667G>A
ENST00000696154.2:n.1457G>A
ENST00000696155.1:n.233G>A
XM_011543824.1:c.1427G>A	XP_011542126.1:p.Arg476His
XM_011543825.1:c.1427G>A	XP_011542127.1:p.Arg476His
XM_011543825.3:c.1427G>A	XP_011542127.1:p.Arg476His
XM_011543826.1:c.1427G>A	XP_011542128.1:p.Arg476His
XM_011543827.1:c.1214G>A	XP_011542129.1:p.Arg405His