Canonical Allele Identifier: CA1028957286
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1665971923
gnomAD v3: 2-31533973-A-G
gnomAD v4: 2-31533973-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533973A>G , CM000664.2:g.31533973A>G GRCh38
NC_000002.11:g.31759043A>G , CM000664.1:g.31759043A>G GRCh37
NC_000002.10:g.31612547A>G NCBI36
NG_008365.1:g.51999T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.282-207T>C MANE Select ENSP00000477587.1:n.282-207T>C
ENST00000622030.1:c.282-207T>C ENSP00000477587.1:n.282-207T>C
NM_000348.3:c.282-207T>C NP_000339.2:n.282-207T>C
XM_011533068.1:c.282-207T>C XP_011531370.1:n.282-207T>C
XM_011533069.1:c.60-207T>C XP_011531371.1:n.60-207T>C
XM_011533070.1:c.27-207T>C XP_011531372.1:n.27-207T>C
XM_011533071.1:c.27-207T>C XP_011531373.1:n.27-207T>C
XM_011533072.1:c.27-207T>C XP_011531374.1:n.27-207T>C
XM_011533069.2:c.60-207T>C XP_011531371.1:n.60-207T>C
XM_011533072.2:c.27-207T>C XP_011531374.1:n.27-207T>C
NM_000348.4:c.282-207T>C MANE Select NP_000339.2:n.282-207T>C