Canonical Allele Identifier: CA378040315
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458306G>T , CM000672.2:g.103458306G>T GRCh38
NC_000010.10:g.105218063G>T , CM000672.1:g.105218063G>T GRCh37
NC_000010.9:g.105208053G>T NCBI36
NG_016855.1:g.5586C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.446C>A MANE Select ENSP00000329926.6:p.Ala149Asp
ENST00000329905.5:c.446C>A ENSP00000329926.5:p.Ala149Asp
NM_001001412.3:c.446C>A NP_001001412.3:p.Ala149Asp
NM_001001412.4:c.446C>A MANE Select NP_001001412.3:p.Ala149Asp