Canonical Allele Identifier: CA7738307

Gene: BLM

Linked Data

• ClinVar Variation Id: 405277
• ClinVar RCV Id: RCV000472724 ; RCV001024105 ; RCV003492048
• dbSNP Id: rs761288442
• ExAC: 15:91293041 C / A
• gnomAD v2: 15-91293041-C-A
• gnomAD v3: 15-90749811-C-A
• gnomAD v4: 15-90749811-C-A
• MyVariant Identifiers: chr15:g.91293041C>A (hg19) ; chr15:g.90749811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749811C>A , CM000677.2:g.90749811C>A	GRCh38
NC_000015.9:g.91293041C>A , CM000677.1:g.91293041C>A	GRCh37
NC_000015.8:g.89094045C>A	NCBI36
NG_007272.1:g.37440C>A , LRG_20:g.37440C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.543C>A MANE Select	ENSP00000347232.3:p.Ser181Arg
ENST00000648453.1:c.543C>A	ENSP00000497646.1:p.Ser181Arg
ENST00000680772.1:c.543C>A	ENSP00000506117.1:p.Ser181Arg
ENST00000681142.1:c.543C>A	ENSP00000506682.1:p.Ser181Arg
ENST00000355112.7:c.543C>A	ENSP00000347232.3:p.Ser181Arg
ENST00000559282.1:n.717C>A
ENST00000559724.5:c.543C>A	ENSP00000453359.1:p.Ser181Arg
ENST00000560509.5:c.543C>A	ENSP00000454158.1:p.Ser181Arg
NM_000057.3:c.543C>A	NP_000048.1:p.Ser181Arg
NM_001287246.1:c.543C>A	NP_001274175.1:p.Ser181Arg
NM_001287247.1:c.543C>A	NP_001274176.1:p.Ser181Arg
NM_001287248.1:c.-749C>A	NP_001274177.1:n.-749C>A
XM_011521882.1:c.543C>A	XP_011520184.1:p.Ser181Arg
XM_011521882.3:c.543C>A	XP_011520184.1:p.Ser181Arg
NM_000057.4:c.543C>A MANE Select	NP_000048.1:p.Ser181Arg
NM_001287246.2:c.543C>A	NP_001274175.1:p.Ser181Arg
NM_001287247.2:c.543C>A	NP_001274176.1:p.Ser181Arg
NM_001287248.2:c.-749C>A	NP_001274177.1:n.-749C>A