Canonical Allele Identifier: CA45136770
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs889410211
gnomAD v2: 2-31758587-T-C
gnomAD v3: 2-31533517-T-C
gnomAD v4: 2-31533517-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533517T>C , CM000664.2:g.31533517T>C GRCh38
NC_000002.11:g.31758587T>C , CM000664.1:g.31758587T>C GRCh37
NC_000002.10:g.31612091T>C NCBI36
NG_008365.1:g.52455A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.445+86A>G MANE Select ENSP00000477587.1:n.445+86A>G
ENST00000622030.1:c.445+86A>G ENSP00000477587.1:n.445+86A>G
NM_000348.3:c.445+86A>G NP_000339.2:n.445+86A>G
XM_011533068.1:c.445+86A>G XP_011531370.1:n.445+86A>G
XM_011533069.1:c.223+86A>G XP_011531371.1:n.223+86A>G
XM_011533070.1:c.190+86A>G XP_011531372.1:n.190+86A>G
XM_011533071.1:c.190+86A>G XP_011531373.1:n.190+86A>G
XM_011533072.1:c.190+86A>G XP_011531374.1:n.190+86A>G
XM_011533069.2:c.223+86A>G XP_011531371.1:n.223+86A>G
XM_011533072.2:c.190+86A>G XP_011531374.1:n.190+86A>G
NM_000348.4:c.445+86A>G MANE Select NP_000339.2:n.445+86A>G