Canonical Allele Identifier: CA378040513
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458393A>T , CM000672.2:g.103458393A>T GRCh38
NC_000010.10:g.105218150A>T , CM000672.1:g.105218150A>T GRCh37
NC_000010.9:g.105208140A>T NCBI36
NG_016855.1:g.5499T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.359T>A MANE Select ENSP00000329926.6:p.Leu120His
ENST00000329905.5:c.359T>A ENSP00000329926.5:p.Leu120His
NM_001001412.3:c.359T>A NP_001001412.3:p.Leu120His
NM_001001412.4:c.359T>A MANE Select NP_001001412.3:p.Leu120His