Canonical Allele Identifier: CA378040311
Gene: CALHM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105218063G>A (hg19) chr10:g.103458306G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458306G>A , CM000672.2:g.103458306G>A GRCh38
NC_000010.10:g.105218063G>A , CM000672.1:g.105218063G>A GRCh37
NC_000010.9:g.105208053G>A NCBI36
NG_016855.1:g.5586C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.446C>T MANE Select ENSP00000329926.6:p.Ala149Val
ENST00000329905.5:c.446C>T ENSP00000329926.5:p.Ala149Val
NM_001001412.3:c.446C>T NP_001001412.3:p.Ala149Val
NM_001001412.4:c.446C>T MANE Select NP_001001412.3:p.Ala149Val
Search 100 bp 5'
Search 100 bp 3'