Canonical Allele Identifier: CA378040329
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458310G>T , CM000672.2:g.103458310G>T GRCh38
NC_000010.10:g.105218067G>T , CM000672.1:g.105218067G>T GRCh37
NC_000010.9:g.105208057G>T NCBI36
NG_016855.1:g.5582C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.442C>A MANE Select ENSP00000329926.6:p.Pro148Thr
ENST00000329905.5:c.442C>A ENSP00000329926.5:p.Pro148Thr
NM_001001412.3:c.442C>A NP_001001412.3:p.Pro148Thr
NM_001001412.4:c.442C>A MANE Select NP_001001412.3:p.Pro148Thr