Canonical Allele Identifier: CA4630061

Gene: BLK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11555465A>G , CM000670.2:g.11555465A>G	GRCh38
NC_000008.10:g.11412974A>G , CM000670.1:g.11412974A>G	GRCh37
NC_000008.9:g.11450383A>G	NCBI36
NG_023543.1:g.66454A>G
NG_023543.2:g.66454A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001715.3:c.753A>G MANE Select	NP_001706.2:p.Gln251=
ENST00000259089.9:c.753A>G MANE Select	ENSP00000259089.4:p.Gln251=
NM_001330465.1:c.540A>G	NP_001317394.1:p.Gln180=
NM_001330465.2:c.540A>G	NP_001317394.1:p.Gln180=
NM_001715.2:c.753A>G	NP_001706.2:p.Gln251=
ENST00000259089.8:c.753A>G	ENSP00000259089.4:p.Gln251=
ENST00000526778.1:n.550A>G
ENST00000529894.1:c.540A>G	ENSP00000433663.1:p.Gln180=
ENST00000645242.1:c.540A>G	ENSP00000494690.1:p.Gln180=
ENST00000696154.1:c.*55A>G	ENSP00000512445.1:n.*55A>G
ENST00000696154.2:n.845A>G
XM_011543824.1:c.753A>G	XP_011542126.1:p.Gln251=
XM_011543825.1:c.753A>G	XP_011542127.1:p.Gln251=
XM_011543825.3:c.753A>G	XP_011542127.1:p.Gln251=
XM_011543826.1:c.753A>G	XP_011542128.1:p.Gln251=
XM_011543827.1:c.540A>G	XP_011542129.1:p.Gln180=
XM_011543828.1:c.753A>G	XP_011542130.1:p.Gln251=
XM_011543828.3:c.753A>G	XP_011542130.1:p.Gln251=
XM_011543829.1:c.753A>G	XP_011542131.1:p.Gln251=
XM_011543829.3:c.753A>G	XP_011542131.1:p.Gln251=
XR_948955.1:n.85+253T>C
XR_948955.2:n.85+253T>C
XR_948956.1:n.85+253T>C
XR_948956.2:n.85+253T>C