Canonical Allele Identifier: CA346598220
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531400-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531400G>C , CM000664.2:g.31531400G>C GRCh38
NC_000002.11:g.31756470G>C , CM000664.1:g.31756470G>C GRCh37
NC_000002.10:g.31609974G>C NCBI36
NG_008365.1:g.54572C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.518C>G MANE Select ENSP00000477587.1:p.Pro173Arg
ENST00000622030.1:c.518C>G ENSP00000477587.1:p.Pro173Arg
NM_000348.3:c.518C>G NP_000339.2:p.Pro173Arg
XM_011533069.1:c.296C>G XP_011531371.1:p.Pro99Arg
XM_011533070.1:c.263C>G XP_011531372.1:p.Pro88Arg
XM_011533071.1:c.263C>G XP_011531373.1:p.Pro88Arg
XM_011533072.1:c.263C>G XP_011531374.1:p.Pro88Arg
XM_011533069.2:c.296C>G XP_011531371.1:p.Pro99Arg
XM_011533072.2:c.263C>G XP_011531374.1:p.Pro88Arg
NM_000348.4:c.518C>G MANE Select NP_000339.2:p.Pro173Arg