Canonical Allele Identifier: CA393846561

Gene: BLM

Linked Data

• ClinVar Variation Id: 1062493
• ClinVar RCV Id: RCV001372217 ; RCV002438871
• dbSNP Id: rs1451226538
• gnomAD v3: 15-90790812-A-G
• gnomAD v4: 15-90790812-A-G
• MyVariant Identifiers: chr15:g.91334042A>G (hg19) ; chr15:g.90790812A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790812A>G , CM000677.2:g.90790812A>G	GRCh38
NC_000015.9:g.91334042A>G , CM000677.1:g.91334042A>G	GRCh37
NC_000015.8:g.89135046A>G	NCBI36
NG_007272.1:g.78441A>G , LRG_20:g.78441A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2987A>G MANE Select	ENSP00000347232.3:p.His996Arg
ENST00000560559.2:n.1560A>G
ENST00000648453.1:c.2987A>G	ENSP00000497646.1:p.His996Arg
ENST00000680772.1:c.2987A>G	ENSP00000506117.1:p.His996Arg
ENST00000681142.1:c.2987A>G	ENSP00000506682.1:p.His996Arg
ENST00000355112.7:c.2987A>G	ENSP00000347232.3:p.His996Arg
ENST00000559724.5:c.*1911A>G	ENSP00000453359.1:n.*1911A>G
ENST00000560136.5:n.1013A>G
ENST00000560509.5:c.2987A>G	ENSP00000454158.1:p.His996Arg
ENST00000560559.1:n.524A>G
NM_000057.3:c.2987A>G	NP_000048.1:p.His996Arg
NM_001287246.1:c.2987A>G	NP_001274175.1:p.His996Arg
NM_001287247.1:c.2987A>G	NP_001274176.1:p.His996Arg
NM_001287248.1:c.1862A>G	NP_001274177.1:p.His621Arg
XM_006720632.2:c.1025A>G	XP_006720695.1:p.His342Arg
XM_011521881.1:c.1673A>G	XP_011520183.1:p.His558Arg
XM_011521881.2:c.1673A>G	XP_011520183.1:p.His558Arg
NM_000057.4:c.2987A>G MANE Select	NP_000048.1:p.His996Arg
NM_001287246.2:c.2987A>G	NP_001274175.1:p.His996Arg
NM_001287247.2:c.2987A>G	NP_001274176.1:p.His996Arg
NM_001287248.2:c.1862A>G	NP_001274177.1:p.His621Arg