Canonical Allele Identifier: CA356957992
Community Standard Title: NM_024592.5(SRD5A3):c.697+1G>C
Gene: SRD5A3 HGNC NCBI
SRD5A3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55367723G>C , CM000666.2:g.55367723G>C GRCh38
NC_000004.11:g.56233890G>C , CM000666.1:g.56233890G>C GRCh37
NC_000004.10:g.55928647G>C NCBI36
NG_028230.1:g.26503G>C

Transcript Alleles

HGVS Amino-acid Change
NM_024592.5:c.697+1G>C (SRD5A3) MANE Select NP_078868.1:n.697+1G>C
ENST00000264228.9:c.697+1G>C (SRD5A3) MANE Select ENSP00000264228.4:n.697+1G>C
NM_024592.4:c.697+1G>C (SRD5A3) NP_078868.1:n.697+1G>C
NR_037969.1:n.364-560C>G (SRD5A3-AS1)
ENST00000264228.8:c.697+1G>C (SRD5A3) ENSP00000264228.4:n.697+1G>C
ENST00000505210.1:c.290-2109G>C (SRD5A3) ENSP00000424714.1:n.290-2109G>C
ENST00000514398.1:n.572-2109G>C (SRD5A3)
ENST00000677177.2:c.544+1G>C (SRD5A3)
ENST00000677217.1:n.435-2109G>C (SRD5A3)
ENST00000677930.1:n.3029+1G>C (SRD5A3)
ENST00000678717.1:n.594+1G>C (SRD5A3)
ENST00000679351.1:c.*303+1G>C ENSP00000505676.1:n.*303+1G>C
ENST00000679707.1:c.562+3452G>C ENSP00000505713.1:n.562+3452G>C
ENST00000679836.1:c.563-2109G>C (SRD5A3) ENSP00000506601.1:n.563-2109G>C
ENST00000680700.1:c.562+3452G>C ENSP00000504926.1:n.562+3452G>C
XM_005265766.2:c.563-2109G>C (SRD5A3) XP_005265823.1:n.563-2109G>C
XM_005265766.4:c.563-2109G>C (SRD5A3) XP_005265823.1:n.563-2109G>C
XM_005265767.2:c.365-2109G>C (SRD5A3) XP_005265824.1:n.365-2109G>C
XM_005265767.3:c.365-2109G>C (SRD5A3) XP_005265824.1:n.365-2109G>C
XM_017008601.1:c.562+1G>C (SRD5A3) XP_016864090.1:n.562+1G>C