Canonical Allele Identifier: CA2733478691
Gene: BLMH HGNC NCBI

Linked Data

dbSNP Id: rs2143018885
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30248892C>T , CM000679.2:g.30248892C>T GRCh38
NC_000017.10:g.28575910C>T , CM000679.1:g.28575910C>T GRCh37
NC_000017.9:g.25600036C>T NCBI36
NG_011440.1:g.48165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261714.11:c.*125G>A MANE Select ENSP00000261714.6:n.*125G>A
ENST00000261714.10:c.*125G>A ENSP00000261714.6:n.*125G>A
ENST00000578090.5:c.*1167G>A ENSP00000462353.1:n.*1167G>A
ENST00000578795.1:n.1392G>A
NM_000386.3:c.*125G>A NP_000377.1:n.*125G>A
XR_934653.1:n.701-895C>T
XR_934655.1:n.701-3182C>T
NM_000386.4:c.*125G>A MANE Select NP_000377.1:n.*125G>A
Search 100 bp 5'
Search 100 bp 3'