Canonical Allele Identifier: CA356957144
Gene: SRD5A3 HGNC NCBI

Linked Data

gnomAD v4: 4-55359437-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359437C>T , CM000666.2:g.55359437C>T GRCh38
NC_000004.11:g.56225604C>T , CM000666.1:g.56225604C>T GRCh37
NC_000004.10:g.55920361C>T NCBI36
NG_028230.1:g.18217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.313C>T MANE Select ENSP00000264228.4:p.Pro105Ser
ENST00000677177.2:c.26C>T
ENST00000678717.1:n.210C>T
ENST00000679351.1:c.313C>T ENSP00000505676.1:p.Pro105Ser
ENST00000679707.1:c.313C>T ENSP00000505713.1:p.Pro105Ser
ENST00000679836.1:c.313C>T ENSP00000506601.1:p.Pro105Ser
ENST00000680700.1:c.313C>T ENSP00000504926.1:p.Pro105Ser
ENST00000264228.8:c.313C>T ENSP00000264228.4:p.Pro105Ser
ENST00000505210.1:c.238C>T ENSP00000424714.1:p.Pro80Ser
ENST00000514398.1:n.322C>T
NM_024592.4:c.313C>T NP_078868.1:p.Pro105Ser
XM_005265766.2:c.313C>T XP_005265823.1:p.Pro105Ser
XM_005265767.2:c.313C>T XP_005265824.1:p.Pro105Ser
XM_005265766.4:c.313C>T XP_005265823.1:p.Pro105Ser
XM_005265767.3:c.313C>T XP_005265824.1:p.Pro105Ser
XM_017008601.1:c.178C>T XP_016864090.1:p.Pro60Ser
NM_024592.5:c.313C>T MANE Select NP_078868.1:p.Pro105Ser