Canonical Allele Identifier: CA356956569
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs1411694536
gnomAD v2: 4-56212542-C-G
gnomAD v4: 4-55346375-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346375C>G , CM000666.2:g.55346375C>G GRCh38
NC_000004.11:g.56212542C>G , CM000666.1:g.56212542C>G GRCh37
NC_000004.10:g.55907299C>G NCBI36
NG_028230.1:g.5155C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264228.9:c.39C>G MANE Select ENSP00000264228.4:p.Asn13Lys
ENST00000679351.1:c.39C>G ENSP00000505676.1:p.Asn13Lys
ENST00000679707.1:c.39C>G ENSP00000505713.1:p.Asn13Lys
ENST00000679836.1:c.39C>G ENSP00000506601.1:p.Asn13Lys
ENST00000680700.1:c.39C>G ENSP00000504926.1:p.Asn13Lys
ENST00000264228.8:c.39C>G ENSP00000264228.4:p.Asn13Lys
NM_024592.4:c.39C>G NP_078868.1:p.Asn13Lys
XM_005265766.2:c.39C>G XP_005265823.1:p.Asn13Lys
XM_005265767.2:c.39C>G XP_005265824.1:p.Asn13Lys
XM_005265766.4:c.39C>G XP_005265823.1:p.Asn13Lys
XM_005265767.3:c.39C>G XP_005265824.1:p.Asn13Lys
NM_024592.5:c.39C>G MANE Select NP_078868.1:p.Asn13Lys