Canonical Allele Identifier: CA7738930

Gene: BLM

Linked Data

• ClinVar Variation Id: 236810
• ClinVar RCV Id: RCV000228961 ; RCV000563912 ; RCV001538791 ; RCV001804962 ; RCV003907844
• dbSNP Id: rs145022945
• ExAC: 15:91337418 A / G
• gnomAD v2: 15-91337418-A-G
• gnomAD v3: 15-90794188-A-G
• gnomAD v4: 15-90794188-A-G
• MyVariant Identifiers: chr15:g.91337418A>G (hg19) ; chr15:g.90794188A>G (hg38)
• PubMed: PMID:23129629

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794188A>G , CM000677.2:g.90794188A>G	GRCh38
NC_000015.9:g.91337418A>G , CM000677.1:g.91337418A>G	GRCh37
NC_000015.8:g.89138422A>G	NCBI36
NG_007272.1:g.81817A>G , LRG_20:g.81817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3041A>G MANE Select	ENSP00000347232.3:p.His1014Arg
ENST00000560559.2:n.1614A>G
ENST00000648453.1:c.3041A>G	ENSP00000497646.1:p.His1014Arg
ENST00000680772.1:c.3041A>G	ENSP00000506117.1:p.His1014Arg
ENST00000681142.1:c.3041A>G	ENSP00000506682.1:p.His1014Arg
ENST00000355112.7:c.3041A>G	ENSP00000347232.3:p.His1014Arg
ENST00000558825.5:n.388A>G
ENST00000559724.5:c.*1965A>G	ENSP00000453359.1:n.*1965A>G
ENST00000560136.5:n.1067A>G
ENST00000560509.5:c.3041A>G	ENSP00000454158.1:p.His1014Arg
ENST00000560559.1:n.578A>G
NM_000057.3:c.3041A>G	NP_000048.1:p.His1014Arg
NM_001287246.1:c.3041A>G	NP_001274175.1:p.His1014Arg
NM_001287247.1:c.3041A>G	NP_001274176.1:p.His1014Arg
NM_001287248.1:c.1916A>G	NP_001274177.1:p.His639Arg
XM_006720632.2:c.1079A>G	XP_006720695.1:p.His360Arg
XM_011521881.1:c.1727A>G	XP_011520183.1:p.His576Arg
XM_011521881.2:c.1727A>G	XP_011520183.1:p.His576Arg
NM_000057.4:c.3041A>G MANE Select	NP_000048.1:p.His1014Arg
NM_001287246.2:c.3041A>G	NP_001274175.1:p.His1014Arg
NM_001287247.2:c.3041A>G	NP_001274176.1:p.His1014Arg
NM_001287248.2:c.1916A>G	NP_001274177.1:p.His639Arg