Canonical Allele Identifier: CA7739117

Gene: BLM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90809213G>A , CM000677.2:g.90809213G>A	GRCh38
NC_000015.9:g.91352443G>A , CM000677.1:g.91352443G>A	GRCh37
NC_000015.8:g.89153447G>A	NCBI36
NG_007272.1:g.96842G>A , LRG_20:g.96842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3828G>A MANE Select	ENSP00000347232.3:p.Ala1276=
ENST00000560559.2:n.2401G>A
ENST00000648453.1:c.3828G>A	ENSP00000497646.1:p.Ala1276=
ENST00000680772.1:c.3828G>A	ENSP00000506117.1:p.Ala1276=
ENST00000681142.1:c.3828G>A	ENSP00000506682.1:p.Ala1276=
ENST00000355112.7:c.3828G>A	ENSP00000347232.3:p.Ala1276=
ENST00000558825.5:n.1175G>A
ENST00000559724.5:c.*2752G>A	ENSP00000453359.1:n.*2752G>A
ENST00000560136.5:n.1854G>A
ENST00000560509.5:c.3435G>A	ENSP00000454158.1:p.Ala1145=
ENST00000560821.1:n.248G>A
NM_000057.3:c.3828G>A	NP_000048.1:p.Ala1276=
NM_001287246.1:c.3828G>A	NP_001274175.1:p.Ala1276=
NM_001287247.1:c.3435G>A	NP_001274176.1:p.Ala1145=
NM_001287248.1:c.2703G>A	NP_001274177.1:p.Ala901=
XM_006720632.2:c.1866G>A	XP_006720695.1:p.Ala622=
XM_011521881.1:c.2514G>A	XP_011520183.1:p.Ala838=
XM_011521881.2:c.2514G>A	XP_011520183.1:p.Ala838=
NM_000057.4:c.3828G>A MANE Select	NP_000048.1:p.Ala1276=
NM_001287246.2:c.3828G>A	NP_001274175.1:p.Ala1276=
NM_001287247.2:c.3435G>A	NP_001274176.1:p.Ala1145=
NM_001287248.2:c.2703G>A	NP_001274177.1:p.Ala901=