Canonical Allele Identifier: CA2670675205
Gene: SRD5A3 HGNC NCBI

Linked Data

gnomAD v4: 4-55359599-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359599G>C , CM000666.2:g.55359599G>C GRCh38
NC_000004.11:g.56225766G>C , CM000666.1:g.56225766G>C GRCh37
NC_000004.10:g.55920523G>C NCBI36
NG_028230.1:g.18379G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.364+111G>C MANE Select ENSP00000264228.4:n.364+111G>C
ENST00000677177.2:c.77+111G>C
ENST00000678717.1:n.261+111G>C
ENST00000679351.1:c.364+111G>C ENSP00000505676.1:n.364+111G>C
ENST00000679707.1:c.364+111G>C ENSP00000505713.1:n.364+111G>C
ENST00000679836.1:c.364+111G>C ENSP00000506601.1:n.364+111G>C
ENST00000680700.1:c.364+111G>C ENSP00000504926.1:n.364+111G>C
ENST00000264228.8:c.364+111G>C ENSP00000264228.4:n.364+111G>C
ENST00000505210.1:c.289+111G>C ENSP00000424714.1:n.289+111G>C
ENST00000514398.1:n.373+111G>C
NM_024592.4:c.364+111G>C NP_078868.1:n.364+111G>C
XM_005265766.2:c.364+111G>C XP_005265823.1:n.364+111G>C
XM_005265767.2:c.364+111G>C XP_005265824.1:n.364+111G>C
XM_005265766.4:c.364+111G>C XP_005265823.1:n.364+111G>C
XM_005265767.3:c.364+111G>C XP_005265824.1:n.364+111G>C
XM_017008601.1:c.229+111G>C XP_016864090.1:n.229+111G>C
NM_024592.5:c.364+111G>C MANE Select NP_078868.1:n.364+111G>C