Canonical Allele Identifier: CA439638137
Gene: SRD5A3 HGNC NCBI

Linked Data

gnomAD v4: 4-55346372-G-A
MyVariant Identifiers: chr4:g.56212539G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346372G>A , CM000666.2:g.55346372G>A GRCh38
NC_000004.11:g.56212539G>A , CM000666.1:g.56212539G>A GRCh37
NC_000004.10:g.55907296G>A NCBI36
NG_028230.1:g.5152G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264228.9:c.36G>A MANE Select ENSP00000264228.4:p.Leu12=
ENST00000679351.1:c.36G>A ENSP00000505676.1:p.Leu12=
ENST00000679707.1:c.36G>A ENSP00000505713.1:p.Leu12=
ENST00000679836.1:c.36G>A ENSP00000506601.1:p.Leu12=
ENST00000680700.1:c.36G>A ENSP00000504926.1:p.Leu12=
ENST00000264228.8:c.36G>A ENSP00000264228.4:p.Leu12=
NM_024592.4:c.36G>A NP_078868.1:p.Leu12=
XM_005265766.2:c.36G>A XP_005265823.1:p.Leu12=
XM_005265767.2:c.36G>A XP_005265824.1:p.Leu12=
XM_005265766.4:c.36G>A XP_005265823.1:p.Leu12=
XM_005265767.3:c.36G>A XP_005265824.1:p.Leu12=
NM_024592.5:c.36G>A MANE Select NP_078868.1:p.Leu12=