Canonical Allele Identifier: CA1162048217
Gene: SMIM12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823338A= , CM000663.2:g.34823338A= GRCh38
NC_000001.10:g.35288939A= , CM000663.1:g.35288939A= GRCh37
NC_000001.9:g.35061526A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32433T= ENSP00000429902.1:n.207+32433T=