Canonical Allele Identifier: CA346598435
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533619G>C , CM000664.2:g.31533619G>C GRCh38
NC_000002.11:g.31758689G>C , CM000664.1:g.31758689G>C GRCh37
NC_000002.10:g.31612193G>C NCBI36
NG_008365.1:g.52353C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.429C>G MANE Select ENSP00000477587.1:p.Asp143Glu
ENST00000622030.1:c.429C>G ENSP00000477587.1:p.Asp143Glu
NM_000348.3:c.429C>G NP_000339.2:p.Asp143Glu
XM_011533068.1:c.429C>G XP_011531370.1:p.Asp143Glu
XM_011533069.1:c.207C>G XP_011531371.1:p.Asp69Glu
XM_011533070.1:c.174C>G XP_011531372.1:p.Asp58Glu
XM_011533071.1:c.174C>G XP_011531373.1:p.Asp58Glu
XM_011533072.1:c.174C>G XP_011531374.1:p.Asp58Glu
XM_011533069.2:c.207C>G XP_011531371.1:p.Asp69Glu
XM_011533072.2:c.174C>G XP_011531374.1:p.Asp58Glu
NM_000348.4:c.429C>G MANE Select NP_000339.2:p.Asp143Glu