Canonical Allele Identifier: CA385383331
Gene: SDR9C7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56929417T>G , CM000674.2:g.56929417T>G GRCh38
NC_000012.11:g.57323201T>G , CM000674.1:g.57323201T>G GRCh37
NC_000012.10:g.55609468T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000293502.2:c.697A>C MANE Select ENSP00000293502.1:p.Ser233Arg
ENST00000293502.1:c.697A>C ENSP00000293502.1:p.Ser233Arg
NM_148897.2:c.697A>C NP_683695.1:p.Ser233Arg
NM_148897.3:c.697A>C MANE Select NP_683695.1:p.Ser233Arg