Canonical Allele Identifier: CA2568687920
Gene: SMIM12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823381C>A , CM000663.2:g.34823381C>A GRCh38
NC_000001.10:g.35288982C>A , CM000663.1:g.35288982C>A GRCh37
NC_000001.9:g.35061569C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32390G>T ENSP00000429902.1:n.207+32390G>T