Canonical Allele Identifier: CA378040362
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458321G>T , CM000672.2:g.103458321G>T GRCh38
NC_000010.10:g.105218078G>T , CM000672.1:g.105218078G>T GRCh37
NC_000010.9:g.105208068G>T NCBI36
NG_016855.1:g.5571C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.431C>A MANE Select ENSP00000329926.6:p.Ala144Glu
ENST00000329905.5:c.431C>A ENSP00000329926.5:p.Ala144Glu
NM_001001412.3:c.431C>A NP_001001412.3:p.Ala144Glu
NM_001001412.4:c.431C>A MANE Select NP_001001412.3:p.Ala144Glu