Canonical Allele Identifier: CA346598162
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531373T>A , CM000664.2:g.31531373T>A GRCh38
NC_000002.11:g.31756443T>A , CM000664.1:g.31756443T>A GRCh37
NC_000002.10:g.31609947T>A NCBI36
NG_008365.1:g.54599A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.545A>T MANE Select ENSP00000477587.1:p.Gln182Leu
ENST00000622030.1:c.545A>T ENSP00000477587.1:p.Gln182Leu
NM_000348.3:c.545A>T NP_000339.2:p.Gln182Leu
XM_011533069.1:c.323A>T XP_011531371.1:p.Gln108Leu
XM_011533070.1:c.290A>T XP_011531372.1:p.Gln97Leu
XM_011533071.1:c.290A>T XP_011531373.1:p.Gln97Leu
XM_011533072.1:c.290A>T XP_011531374.1:p.Gln97Leu
XM_011533069.2:c.323A>T XP_011531371.1:p.Gln108Leu
XM_011533072.2:c.290A>T XP_011531374.1:p.Gln97Leu
NM_000348.4:c.545A>T MANE Select NP_000339.2:p.Gln182Leu