Canonical Allele Identifier: CA378040532
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458405G>A , CM000672.2:g.103458405G>A GRCh38
NC_000010.10:g.105218162G>A , CM000672.1:g.105218162G>A GRCh37
NC_000010.9:g.105208152G>A NCBI36
NG_016855.1:g.5487C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329905.6:c.347C>T MANE Select ENSP00000329926.6:p.Ala116Val
ENST00000329905.5:c.347C>T ENSP00000329926.5:p.Ala116Val
NM_001001412.3:c.347C>T NP_001001412.3:p.Ala116Val
NM_001001412.4:c.347C>T MANE Select NP_001001412.3:p.Ala116Val