Canonical Allele Identifier: CA378040430
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs2033177890
MyVariant Identifiers: chr10:g.105218114G>T (hg19) chr10:g.103458357G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458357G>T , CM000672.2:g.103458357G>T GRCh38
NC_000010.10:g.105218114G>T , CM000672.1:g.105218114G>T GRCh37
NC_000010.9:g.105208104G>T NCBI36
NG_016855.1:g.5535C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.395C>A MANE Select ENSP00000329926.6:p.Ala132Asp
ENST00000329905.5:c.395C>A ENSP00000329926.5:p.Ala132Asp
NM_001001412.3:c.395C>A NP_001001412.3:p.Ala132Asp
NM_001001412.4:c.395C>A MANE Select NP_001001412.3:p.Ala132Asp
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