Canonical Allele Identifier: CA346598206
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531393T>A , CM000664.2:g.31531393T>A GRCh38
NC_000002.11:g.31756463T>A , CM000664.1:g.31756463T>A GRCh37
NC_000002.10:g.31609967T>A NCBI36
NG_008365.1:g.54579A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.525A>T MANE Select ENSP00000477587.1:p.Glu175Asp
ENST00000622030.1:c.525A>T ENSP00000477587.1:p.Glu175Asp
NM_000348.3:c.525A>T NP_000339.2:p.Glu175Asp
XM_011533069.1:c.303A>T XP_011531371.1:p.Glu101Asp
XM_011533070.1:c.270A>T XP_011531372.1:p.Glu90Asp
XM_011533071.1:c.270A>T XP_011531373.1:p.Glu90Asp
XM_011533072.1:c.270A>T XP_011531374.1:p.Glu90Asp
XM_011533069.2:c.303A>T XP_011531371.1:p.Glu101Asp
XM_011533072.2:c.270A>T XP_011531374.1:p.Glu90Asp
NM_000348.4:c.525A>T MANE Select NP_000339.2:p.Glu175Asp