Canonical Allele Identifier: CA393841045

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90749825C>A , CM000677.2:g.90749825C>A	GRCh38
NC_000015.9:g.91293055C>A , CM000677.1:g.91293055C>A	GRCh37
NC_000015.8:g.89094059C>A	NCBI36
NG_007272.1:g.37454C>A , LRG_20:g.37454C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000057.4:c.557C>A MANE Select	NP_000048.1:p.Ser186Ter
ENST00000355112.8:c.557C>A MANE Select	ENSP00000347232.3:p.Ser186Ter
NM_000057.3:c.557C>A	NP_000048.1:p.Ser186Ter
NM_001287246.1:c.557C>A	NP_001274175.1:p.Ser186Ter
NM_001287246.2:c.557C>A	NP_001274175.1:p.Ser186Ter
NM_001287247.1:c.557C>A	NP_001274176.1:p.Ser186Ter
NM_001287247.2:c.557C>A	NP_001274176.1:p.Ser186Ter
NM_001287248.1:c.-735C>A	NP_001274177.1:n.-735C>A
NM_001287248.2:c.-735C>A	NP_001274177.1:n.-735C>A
ENST00000355112.7:c.557C>A	ENSP00000347232.3:p.Ser186Ter
ENST00000559282.1:n.731C>A
ENST00000559724.5:c.557C>A	ENSP00000453359.1:p.Ser186Ter
ENST00000560509.5:c.557C>A	ENSP00000454158.1:p.Ser186Ter
ENST00000648453.1:c.557C>A	ENSP00000497646.1:p.Ser186Ter
ENST00000680772.1:c.557C>A	ENSP00000506117.1:p.Ser186Ter
ENST00000681142.1:c.557C>A	ENSP00000506682.1:p.Ser186Ter
XM_011521882.1:c.557C>A	XP_011520184.1:p.Ser186Ter
XM_011521882.3:c.557C>A	XP_011520184.1:p.Ser186Ter