Canonical Allele Identifier: CA2195303185

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90813274T>A , CM000677.2:g.90813274T>A	GRCh38
NC_000015.9:g.91356504T>A , CM000677.1:g.91356504T>A	GRCh37
NC_000015.8:g.89157508T>A	NCBI36
NG_007272.1:g.100903T>A , LRG_20:g.100903T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.4077-1828T>A MANE Select	NP_000048.1:n.4077-1828T>A
ENST00000355112.8:c.4077-1828T>A MANE Select	ENSP00000347232.3:n.4077-1828T>A
NM_000057.3:c.4077-1828T>A	NP_000048.1:n.4077-1828T>A
NM_001287246.1:c.4077-1828T>A	NP_001274175.1:n.4077-1828T>A
NM_001287246.2:c.4077-1828T>A	NP_001274175.1:n.4077-1828T>A
NM_001287247.1:c.3684-1828T>A	NP_001274176.1:n.3684-1828T>A
NM_001287247.2:c.3684-1828T>A	NP_001274176.1:n.3684-1828T>A
NM_001287248.1:c.2952-1828T>A	NP_001274177.1:n.2952-1828T>A
NM_001287248.2:c.2952-1828T>A	NP_001274177.1:n.2952-1828T>A
ENST00000355112.7:c.4077-1828T>A	ENSP00000347232.3:n.4077-1828T>A
ENST00000558825.5:n.1424-1828T>A
ENST00000559724.5:c.*3001-1828T>A	ENSP00000453359.1:n.*3001-1828T>A
ENST00000560509.5:c.3684-1828T>A	ENSP00000454158.1:n.3684-1828T>A
ENST00000560559.2:n.2650-1828T>A
ENST00000560821.1:n.497-1828T>A
ENST00000648453.1:c.*38+1474T>A	ENSP00000497646.1:n.*38+1474T>A
ENST00000680772.1:c.4077-1828T>A	ENSP00000506117.1:n.4077-1828T>A
XM_006720632.2:c.2115-1828T>A	XP_006720695.1:n.2115-1828T>A
XM_011521881.1:c.2763-1828T>A	XP_011520183.1:n.2763-1828T>A
XM_011521881.2:c.2763-1828T>A	XP_011520183.1:n.2763-1828T>A