Canonical Allele Identifier: CA972704615

Gene: BLM

Linked Data

• dbSNP Id: rs1897423860
• gnomAD v3: 15-90811646-G-A
• gnomAD v4: 15-90811646-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811646G>A , CM000677.2:g.90811646G>A	GRCh38
NC_000015.9:g.91354876G>A , CM000677.1:g.91354876G>A	GRCh37
NC_000015.8:g.89155880G>A	NCBI36
NG_007272.1:g.99275G>A , LRG_20:g.99275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4076+240G>A MANE Select	ENSP00000347232.3:n.4076+240G>A
ENST00000560559.2:n.2649+240G>A
ENST00000648453.1:c.4077-32G>A	ENSP00000497646.1:n.4077-32G>A
ENST00000680772.1:c.4076+240G>A	ENSP00000506117.1:n.4076+240G>A
ENST00000681142.1:c.4077-199G>A	ENSP00000506682.1:n.4077-199G>A
ENST00000355112.7:c.4076+240G>A	ENSP00000347232.3:n.4076+240G>A
ENST00000558825.5:n.1423+240G>A
ENST00000559724.5:c.*3000+240G>A	ENSP00000453359.1:n.*3000+240G>A
ENST00000560509.5:c.3683+240G>A	ENSP00000454158.1:n.3683+240G>A
ENST00000560821.1:n.496+240G>A
NM_000057.3:c.4076+240G>A	NP_000048.1:n.4076+240G>A
NM_001287246.1:c.4076+240G>A	NP_001274175.1:n.4076+240G>A
NM_001287247.1:c.3683+240G>A	NP_001274176.1:n.3683+240G>A
NM_001287248.1:c.2951+240G>A	NP_001274177.1:n.2951+240G>A
XM_006720632.2:c.2114+240G>A	XP_006720695.1:n.2114+240G>A
XM_011521881.1:c.2762+240G>A	XP_011520183.1:n.2762+240G>A
XM_011521881.2:c.2762+240G>A	XP_011520183.1:n.2762+240G>A
NM_000057.4:c.4076+240G>A MANE Select	NP_000048.1:n.4076+240G>A
NM_001287246.2:c.4076+240G>A	NP_001274175.1:n.4076+240G>A
NM_001287247.2:c.3683+240G>A	NP_001274176.1:n.3683+240G>A
NM_001287248.2:c.2951+240G>A	NP_001274177.1:n.2951+240G>A