Canonical Allele Identifier: CA346598278
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531427T>G , CM000664.2:g.31531427T>G GRCh38
NC_000002.11:g.31756497T>G , CM000664.1:g.31756497T>G GRCh37
NC_000002.10:g.31610001T>G NCBI36
NG_008365.1:g.54545A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.491A>C MANE Select ENSP00000477587.1:p.Asp164Ala
ENST00000622030.1:c.491A>C ENSP00000477587.1:p.Asp164Ala
NM_000348.3:c.491A>C NP_000339.2:p.Asp164Ala
XM_011533069.1:c.269A>C XP_011531371.1:p.Asp90Ala
XM_011533070.1:c.236A>C XP_011531372.1:p.Asp79Ala
XM_011533071.1:c.236A>C XP_011531373.1:p.Asp79Ala
XM_011533072.1:c.236A>C XP_011531374.1:p.Asp79Ala
XM_011533069.2:c.269A>C XP_011531371.1:p.Asp90Ala
XM_011533072.2:c.236A>C XP_011531374.1:p.Asp79Ala
NM_000348.4:c.491A>C MANE Select NP_000339.2:p.Asp164Ala