Canonical Allele Identifier: CA2195281011

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754837A= , CM000677.2:g.90754837A=	GRCh38
NC_000015.9:g.91298067A= , CM000677.1:g.91298067A=	GRCh37
NC_000015.8:g.89099071A=	NCBI36
NG_007272.1:g.42466A= , LRG_20:g.42466A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.986A= MANE Select	ENSP00000347232.3:p.Asp329=
ENST00000648453.1:c.986A=	ENSP00000497646.1:p.Asp329=
ENST00000680772.1:c.986A=	ENSP00000506117.1:p.Asp329=
ENST00000681142.1:c.986A=	ENSP00000506682.1:p.Asp329=
ENST00000355112.7:c.986A=	ENSP00000347232.3:p.Asp329=
ENST00000558599.1:n.247A=
ENST00000559724.5:c.986A=	ENSP00000453359.1:p.Asp329=
ENST00000560509.5:c.986A=	ENSP00000454158.1:p.Asp329=
NM_000057.3:c.986A=	NP_000048.1:p.Asp329=
NM_001287246.1:c.986A=	NP_001274175.1:p.Asp329=
NM_001287247.1:c.986A=	NP_001274176.1:p.Asp329=
NM_001287248.1:c.-306A=	NP_001274177.1:n.-306A=
XM_011521881.1:c.-196A=	XP_011520183.1:n.-196A=
XM_011521882.1:c.986A=	XP_011520184.1:p.Asp329=
XM_011521881.2:c.-196A=	XP_011520183.1:n.-196A=
XM_011521882.3:c.986A=	XP_011520184.1:p.Asp329=
NM_000057.4:c.986A= MANE Select	NP_000048.1:p.Asp329=
NM_001287246.2:c.986A=	NP_001274175.1:p.Asp329=
NM_001287247.2:c.986A=	NP_001274176.1:p.Asp329=
NM_001287248.2:c.-306A=	NP_001274177.1:n.-306A=