Canonical Allele Identifier: CA2743145102
Gene: SMIM12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823390G>T , CM000663.2:g.34823390G>T GRCh38
NC_000001.10:g.35288991G>T , CM000663.1:g.35288991G>T GRCh37
NC_000001.9:g.35061578G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32381C>A ENSP00000429902.1:n.207+32381C>A