Canonical Allele Identifier: CA16042440
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372520
dbSNP Id: rs1057517829
gnomAD v2: 2-31756446-G-A
gnomAD v3: 2-31531376-G-A
gnomAD v4: 2-31531376-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531376G>A , CM000664.2:g.31531376G>A GRCh38
NC_000002.11:g.31756446G>A , CM000664.1:g.31756446G>A GRCh37
NC_000002.10:g.31609950G>A NCBI36
NG_008365.1:g.54596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.542C>T MANE Select ENSP00000477587.1:p.Pro181Leu
ENST00000622030.1:c.542C>T ENSP00000477587.1:p.Pro181Leu
NM_000348.3:c.542C>T NP_000339.2:p.Pro181Leu
XM_011533069.1:c.320C>T XP_011531371.1:p.Pro107Leu
XM_011533070.1:c.287C>T XP_011531372.1:p.Pro96Leu
XM_011533071.1:c.287C>T XP_011531373.1:p.Pro96Leu
XM_011533072.1:c.287C>T XP_011531374.1:p.Pro96Leu
XM_011533069.2:c.320C>T XP_011531371.1:p.Pro107Leu
XM_011533072.2:c.287C>T XP_011531374.1:p.Pro96Leu
NM_000348.4:c.542C>T MANE Select NP_000339.2:p.Pro181Leu