Canonical Allele Identifier: CA274731443

Gene: BLM

Linked Data

• dbSNP Id: rs544060801
• gnomAD v3: 15-90754686-A-C
• gnomAD v4: 15-90754686-A-C
• MyVariant Identifiers: chr15:g.91297916A>C (hg19) ; chr15:g.90754686A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754686A>C , CM000677.2:g.90754686A>C	GRCh38
NC_000015.9:g.91297916A>C , CM000677.1:g.91297916A>C	GRCh37
NC_000015.8:g.89098920A>C	NCBI36
NG_007272.1:g.42315A>C , LRG_20:g.42315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.960-125A>C MANE Select	ENSP00000347232.3:n.960-125A>C
ENST00000648453.1:c.960-125A>C	ENSP00000497646.1:n.960-125A>C
ENST00000680772.1:c.960-125A>C	ENSP00000506117.1:n.960-125A>C
ENST00000681142.1:c.960-125A>C	ENSP00000506682.1:n.960-125A>C
ENST00000355112.7:c.960-125A>C	ENSP00000347232.3:n.960-125A>C
ENST00000558599.1:n.221-125A>C
ENST00000559724.5:c.960-125A>C	ENSP00000453359.1:n.960-125A>C
ENST00000560509.5:c.960-125A>C	ENSP00000454158.1:n.960-125A>C
NM_000057.3:c.960-125A>C	NP_000048.1:n.960-125A>C
NM_001287246.1:c.960-125A>C	NP_001274175.1:n.960-125A>C
NM_001287247.1:c.960-125A>C	NP_001274176.1:n.960-125A>C
NM_001287248.1:c.-332-125A>C	NP_001274177.1:n.-332-125A>C
XM_011521881.1:c.-222-125A>C	XP_011520183.1:n.-222-125A>C
XM_011521882.1:c.960-125A>C	XP_011520184.1:n.960-125A>C
XM_011521881.2:c.-222-125A>C	XP_011520183.1:n.-222-125A>C
XM_011521882.3:c.960-125A>C	XP_011520184.1:n.960-125A>C
NM_000057.4:c.960-125A>C MANE Select	NP_000048.1:n.960-125A>C
NM_001287246.2:c.960-125A>C	NP_001274175.1:n.960-125A>C
NM_001287247.2:c.960-125A>C	NP_001274176.1:n.960-125A>C
NM_001287248.2:c.-332-125A>C	NP_001274177.1:n.-332-125A>C