Canonical Allele Identifier: CA393839943

Gene: BLM

Linked Data

• ClinVar Variation Id: 524755
• ClinVar RCV Id: RCV000628614 ; RCV002448923
• dbSNP Id: rs1555418292
• gnomAD v4: 15-90749513-A-G
• MyVariant Identifiers: chr15:g.91292743A>G (hg19) ; chr15:g.90749513A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749513A>G , CM000677.2:g.90749513A>G	GRCh38
NC_000015.9:g.91292743A>G , CM000677.1:g.91292743A>G	GRCh37
NC_000015.8:g.89093747A>G	NCBI36
NG_007272.1:g.37142A>G , LRG_20:g.37142A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.245A>G MANE Select	ENSP00000347232.3:p.Asn82Ser
ENST00000648453.1:c.245A>G	ENSP00000497646.1:p.Asn82Ser
ENST00000680772.1:c.245A>G	ENSP00000506117.1:p.Asn82Ser
ENST00000681142.1:c.245A>G	ENSP00000506682.1:p.Asn82Ser
ENST00000355112.7:c.245A>G	ENSP00000347232.3:p.Asn82Ser
ENST00000559282.1:n.419A>G
ENST00000559724.5:c.245A>G	ENSP00000453359.1:p.Asn82Ser
ENST00000560509.5:c.245A>G	ENSP00000454158.1:p.Asn82Ser
NM_000057.3:c.245A>G	NP_000048.1:p.Asn82Ser
NM_001287246.1:c.245A>G	NP_001274175.1:p.Asn82Ser
NM_001287247.1:c.245A>G	NP_001274176.1:p.Asn82Ser
NM_001287248.1:c.-1047A>G	NP_001274177.1:n.-1047A>G
XM_011521882.1:c.245A>G	XP_011520184.1:p.Asn82Ser
XM_011521882.3:c.245A>G	XP_011520184.1:p.Asn82Ser
NM_000057.4:c.245A>G MANE Select	NP_000048.1:p.Asn82Ser
NM_001287246.2:c.245A>G	NP_001274175.1:p.Asn82Ser
NM_001287247.2:c.245A>G	NP_001274176.1:p.Asn82Ser
NM_001287248.2:c.-1047A>G	NP_001274177.1:n.-1047A>G