Canonical Allele Identifier: CA619578106

Gene: BLM

Linked Data

• dbSNP Id: rs1404054462
• gnomAD v2: 15-91297998-C-A
• gnomAD v3: 15-90754768-C-A
• gnomAD v4: 15-90754768-C-A
• MyVariant Identifiers: chr15:g.91297998C>A (hg19) ; chr15:g.90754768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754768C>A , CM000677.2:g.90754768C>A	GRCh38
NC_000015.9:g.91297998C>A , CM000677.1:g.91297998C>A	GRCh37
NC_000015.8:g.89099002C>A	NCBI36
NG_007272.1:g.42397C>A , LRG_20:g.42397C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.960-43C>A MANE Select	ENSP00000347232.3:n.960-43C>A
ENST00000648453.1:c.960-43C>A	ENSP00000497646.1:n.960-43C>A
ENST00000680772.1:c.960-43C>A	ENSP00000506117.1:n.960-43C>A
ENST00000681142.1:c.960-43C>A	ENSP00000506682.1:n.960-43C>A
ENST00000355112.7:c.960-43C>A	ENSP00000347232.3:n.960-43C>A
ENST00000558599.1:n.221-43C>A
ENST00000559724.5:c.960-43C>A	ENSP00000453359.1:n.960-43C>A
ENST00000560509.5:c.960-43C>A	ENSP00000454158.1:n.960-43C>A
NM_000057.3:c.960-43C>A	NP_000048.1:n.960-43C>A
NM_001287246.1:c.960-43C>A	NP_001274175.1:n.960-43C>A
NM_001287247.1:c.960-43C>A	NP_001274176.1:n.960-43C>A
NM_001287248.1:c.-332-43C>A	NP_001274177.1:n.-332-43C>A
XM_011521881.1:c.-222-43C>A	XP_011520183.1:n.-222-43C>A
XM_011521882.1:c.960-43C>A	XP_011520184.1:n.960-43C>A
XM_011521881.2:c.-222-43C>A	XP_011520183.1:n.-222-43C>A
XM_011521882.3:c.960-43C>A	XP_011520184.1:n.960-43C>A
NM_000057.4:c.960-43C>A MANE Select	NP_000048.1:n.960-43C>A
NM_001287246.2:c.960-43C>A	NP_001274175.1:n.960-43C>A
NM_001287247.2:c.960-43C>A	NP_001274176.1:n.960-43C>A
NM_001287248.2:c.-332-43C>A	NP_001274177.1:n.-332-43C>A