Canonical Allele Identifier: CA346597752
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526230T>G , CM000664.2:g.31526230T>G GRCh38
NC_000002.11:g.31751300T>G , CM000664.1:g.31751300T>G GRCh37
NC_000002.10:g.31604804T>G NCBI36
NG_008365.1:g.59742A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.731A>C MANE Select ENSP00000477587.1:p.Lys244Thr
ENST00000622030.1:c.731A>C ENSP00000477587.1:p.Lys244Thr
NM_000348.3:c.731A>C NP_000339.2:p.Lys244Thr
XM_011533069.1:c.509A>C XP_011531371.1:p.Lys170Thr
XM_011533070.1:c.476A>C XP_011531372.1:p.Lys159Thr
XM_011533071.1:c.476A>C XP_011531373.1:p.Lys159Thr
XM_011533072.1:c.476A>C XP_011531374.1:p.Lys159Thr
XM_011533069.2:c.509A>C XP_011531371.1:p.Lys170Thr
XM_011533072.2:c.476A>C XP_011531374.1:p.Lys159Thr
NM_000348.4:c.731A>C MANE Select NP_000339.2:p.Lys244Thr