Canonical Allele Identifier: CA97479109
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs1018975392
gnomAD v2: 4-56212440-C-T
gnomAD v3: 4-55346273-C-T
gnomAD v4: 4-55346273-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346273C>T , CM000666.2:g.55346273C>T GRCh38
NC_000004.11:g.56212440C>T , CM000666.1:g.56212440C>T GRCh37
NC_000004.10:g.55907197C>T NCBI36
NG_028230.1:g.5053C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.-64C>T MANE Select ENSP00000264228.4:n.-64C>T
ENST00000679707.1:c.-64C>T ENSP00000505713.1:n.-64C>T
ENST00000679836.1:c.-64C>T ENSP00000506601.1:n.-64C>T
ENST00000264228.8:c.-64C>T ENSP00000264228.4:n.-64C>T
NM_024592.4:c.-64C>T NP_078868.1:n.-64C>T
XM_005265766.2:c.-64C>T XP_005265823.1:n.-64C>T
XM_005265767.2:c.-64C>T XP_005265824.1:n.-64C>T
XM_005265766.4:c.-64C>T XP_005265823.1:n.-64C>T
XM_005265767.3:c.-64C>T XP_005265824.1:n.-64C>T
NM_024592.5:c.-64C>T MANE Select NP_078868.1:n.-64C>T