Canonical Allele Identifier: CA4630353

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11561320T>C , CM000670.2:g.11561320T>C	GRCh38
NC_000008.10:g.11418829T>C , CM000670.1:g.11418829T>C	GRCh37
NC_000008.9:g.11456238T>C	NCBI36
NG_023543.1:g.72309T>C
NG_023543.2:g.72309T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.1048T>C MANE Select	NP_001706.2:p.Tyr350His
ENST00000259089.9:c.1048T>C MANE Select	ENSP00000259089.4:p.Tyr350His
NM_001330465.1:c.835T>C	NP_001317394.1:p.Tyr279His
NM_001330465.2:c.835T>C	NP_001317394.1:p.Tyr279His
NM_001715.2:c.1048T>C	NP_001706.2:p.Tyr350His
ENST00000259089.8:c.1048T>C	ENSP00000259089.4:p.Tyr350His
ENST00000526097.1:n.988T>C
ENST00000529894.1:c.835T>C	ENSP00000433663.1:p.Tyr279His
ENST00000645242.1:c.835T>C	ENSP00000494690.1:p.Tyr279His
ENST00000696154.1:c.*366T>C	ENSP00000512445.1:n.*366T>C
ENST00000696154.2:n.1156T>C
XM_011543824.1:c.1126T>C	XP_011542126.1:p.Tyr376His
XM_011543825.1:c.1126T>C	XP_011542127.1:p.Tyr376His
XM_011543825.3:c.1126T>C	XP_011542127.1:p.Tyr376His
XM_011543826.1:c.1126T>C	XP_011542128.1:p.Tyr376His
XM_011543827.1:c.913T>C	XP_011542129.1:p.Tyr305His