Canonical Allele Identifier: CA393850886
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1060609
ClinVar RCV Id: RCV001370065
dbSNP Id: rs2151199849

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90811289C>A , CM000677.2:g.90811289C>A GRCh38
NC_000015.9:g.91354519C>A , CM000677.1:g.91354519C>A GRCh37
NC_000015.8:g.89155523C>A NCBI36
NG_007272.1:g.98918C>A , LRG_20:g.98918C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355112.8:c.3959C>A MANE Select ENSP00000347232.3:p.Pro1320His
ENST00000560559.2:n.2532C>A
ENST00000648453.1:c.3959C>A ENSP00000497646.1:p.Pro1320His
ENST00000680772.1:c.3959C>A ENSP00000506117.1:p.Pro1320His
ENST00000681142.1:c.3959C>A ENSP00000506682.1:p.Pro1320His
ENST00000355112.7:c.3959C>A ENSP00000347232.3:p.Pro1320His
ENST00000558825.5:n.1306C>A
ENST00000559724.5:c.*2883C>A ENSP00000453359.1:n.*2883C>A
ENST00000560136.5:n.1985C>A
ENST00000560509.5:c.3566C>A ENSP00000454158.1:p.Pro1189His
ENST00000560821.1:n.379C>A
NM_000057.3:c.3959C>A NP_000048.1:p.Pro1320His
NM_001287246.1:c.3959C>A NP_001274175.1:p.Pro1320His
NM_001287247.1:c.3566C>A NP_001274176.1:p.Pro1189His
NM_001287248.1:c.2834C>A NP_001274177.1:p.Pro945His
XM_006720632.2:c.1997C>A XP_006720695.1:p.Pro666His
XM_011521881.1:c.2645C>A XP_011520183.1:p.Pro882His
XM_011521881.2:c.2645C>A XP_011520183.1:p.Pro882His
NM_000057.4:c.3959C>A MANE Select NP_000048.1:p.Pro1320His
NM_001287246.2:c.3959C>A NP_001274175.1:p.Pro1320His
NM_001287247.2:c.3566C>A NP_001274176.1:p.Pro1189His
NM_001287248.2:c.2834C>A NP_001274177.1:p.Pro945His