Canonical Allele Identifier: CA378040511
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.359T>G MANE Select ENSP00000329926.6:p.Leu120Arg
ENST00000329905.5:c.359T>G ENSP00000329926.5:p.Leu120Arg
NM_001001412.3:c.359T>G NP_001001412.3:p.Leu120Arg
NM_001001412.4:c.359T>G MANE Select NP_001001412.3:p.Leu120Arg