Canonical Allele Identifier: CA735290952
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs746666928

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823351dup , CM000663.2:g.34823351dup GRCh38
NC_000001.10:g.35288952dup , CM000663.1:g.35288952dup GRCh37
NC_000001.9:g.35061539dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32426dup ENSP00000429902.1:n.207+32426dup