Canonical Allele Identifier: CA425567510
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1200261940
gnomAD v2: 2-31756454-G-A
gnomAD v4: 2-31531384-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531384G>A , CM000664.2:g.31531384G>A GRCh38
NC_000002.11:g.31756454G>A , CM000664.1:g.31756454G>A GRCh37
NC_000002.10:g.31609958G>A NCBI36
NG_008365.1:g.54588C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.534C>T MANE Select ENSP00000477587.1:p.Tyr178=
ENST00000622030.1:c.534C>T ENSP00000477587.1:p.Tyr178=
NM_000348.3:c.534C>T NP_000339.2:p.Tyr178=
XM_011533069.1:c.312C>T XP_011531371.1:p.Tyr104=
XM_011533070.1:c.279C>T XP_011531372.1:p.Tyr93=
XM_011533071.1:c.279C>T XP_011531373.1:p.Tyr93=
XM_011533072.1:c.279C>T XP_011531374.1:p.Tyr93=
XM_011533069.2:c.312C>T XP_011531371.1:p.Tyr104=
XM_011533072.2:c.279C>T XP_011531374.1:p.Tyr93=
NM_000348.4:c.534C>T MANE Select NP_000339.2:p.Tyr178=