Canonical Allele Identifier: CA346598079
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529425A>C , CM000664.2:g.31529425A>C GRCh38
NC_000002.11:g.31754495A>C , CM000664.1:g.31754495A>C GRCh37
NC_000002.10:g.31607999A>C NCBI36
NG_008365.1:g.56547T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.580T>G MANE Select ENSP00000477587.1:p.Phe194Val
ENST00000622030.1:c.580T>G ENSP00000477587.1:p.Phe194Val
NM_000348.3:c.580T>G NP_000339.2:p.Phe194Val
XM_011533069.1:c.358T>G XP_011531371.1:p.Phe120Val
XM_011533070.1:c.325T>G XP_011531372.1:p.Phe109Val
XM_011533071.1:c.325T>G XP_011531373.1:p.Phe109Val
XM_011533072.1:c.325T>G XP_011531374.1:p.Phe109Val
XM_011533069.2:c.358T>G XP_011531371.1:p.Phe120Val
XM_011533072.2:c.325T>G XP_011531374.1:p.Phe109Val
NM_000348.4:c.580T>G MANE Select NP_000339.2:p.Phe194Val