Canonical Allele Identifier: CA2195280977
Gene: BLM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90754777A= , CM000677.2:g.90754777A= GRCh38
NC_000015.9:g.91298007A= , CM000677.1:g.91298007A= GRCh37
NC_000015.8:g.89099011A= NCBI36
NG_007272.1:g.42406A= , LRG_20:g.42406A=

Transcript Alleles

HGVS Amino-acid change
ENST00000355112.8:c.960-34A= MANE Select ENSP00000347232.3:n.960-34A=
ENST00000648453.1:c.960-34A= ENSP00000497646.1:n.960-34A=
ENST00000680772.1:c.960-34A= ENSP00000506117.1:n.960-34A=
ENST00000681142.1:c.960-34A= ENSP00000506682.1:n.960-34A=
ENST00000355112.7:c.960-34A= ENSP00000347232.3:n.960-34A=
ENST00000558599.1:n.221-34A=
ENST00000559724.5:c.960-34A= ENSP00000453359.1:n.960-34A=
ENST00000560509.5:c.960-34A= ENSP00000454158.1:n.960-34A=
NM_000057.3:c.960-34A= NP_000048.1:n.960-34A=
NM_001287246.1:c.960-34A= NP_001274175.1:n.960-34A=
NM_001287247.1:c.960-34A= NP_001274176.1:n.960-34A=
NM_001287248.1:c.-332-34A= NP_001274177.1:n.-332-34A=
XM_011521881.1:c.-222-34A= XP_011520183.1:n.-222-34A=
XM_011521882.1:c.960-34A= XP_011520184.1:n.960-34A=
XM_011521881.2:c.-222-34A= XP_011520183.1:n.-222-34A=
XM_011521882.3:c.960-34A= XP_011520184.1:n.960-34A=
NM_000057.4:c.960-34A= MANE Select NP_000048.1:n.960-34A=
NM_001287246.2:c.960-34A= NP_001274175.1:n.960-34A=
NM_001287247.2:c.960-34A= NP_001274176.1:n.960-34A=
NM_001287248.2:c.-332-34A= NP_001274177.1:n.-332-34A=