Canonical Allele Identifier: CA356956559
Gene: SRD5A3 HGNC NCBI

Linked Data

gnomAD v4: 4-55346370-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346370C>A , CM000666.2:g.55346370C>A GRCh38
NC_000004.11:g.56212537C>A , CM000666.1:g.56212537C>A GRCh37
NC_000004.10:g.55907294C>A NCBI36
NG_028230.1:g.5150C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264228.9:c.34C>A MANE Select ENSP00000264228.4:p.Leu12Met
ENST00000679351.1:c.34C>A ENSP00000505676.1:p.Leu12Met
ENST00000679707.1:c.34C>A ENSP00000505713.1:p.Leu12Met
ENST00000679836.1:c.34C>A ENSP00000506601.1:p.Leu12Met
ENST00000680700.1:c.34C>A ENSP00000504926.1:p.Leu12Met
ENST00000264228.8:c.34C>A ENSP00000264228.4:p.Leu12Met
NM_024592.4:c.34C>A NP_078868.1:p.Leu12Met
XM_005265766.2:c.34C>A XP_005265823.1:p.Leu12Met
XM_005265767.2:c.34C>A XP_005265824.1:p.Leu12Met
XM_005265766.4:c.34C>A XP_005265823.1:p.Leu12Met
XM_005265767.3:c.34C>A XP_005265824.1:p.Leu12Met
NM_024592.5:c.34C>A MANE Select NP_078868.1:p.Leu12Met