Canonical Allele Identifier: CA1933125158
Gene: CALHM1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458362G= , CM000672.2:g.103458362G= GRCh38
NC_000010.10:g.105218119G= , CM000672.1:g.105218119G= GRCh37
NC_000010.9:g.105208109G= NCBI36
NG_016855.1:g.5530C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.390C= MANE Select ENSP00000329926.6:p.Cys130=
ENST00000329905.5:c.390C= ENSP00000329926.5:p.Cys130=
NM_001001412.3:c.390C= NP_001001412.3:p.Cys130=
NM_001001412.4:c.390C= MANE Select NP_001001412.3:p.Cys130=
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