Canonical Allele Identifier: CA551566757
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs1446594770
gnomAD v2: 4-56212386-C-T
gnomAD v3: 4-55346219-C-T
gnomAD v4: 4-55346219-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346219C>T , CM000666.2:g.55346219C>T GRCh38
NC_000004.11:g.56212386C>T , CM000666.1:g.56212386C>T GRCh37
NC_000004.10:g.55907143C>T NCBI36
NG_028230.1:g.4999C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679836.1:c.-118C>T ENSP00000506601.1:n.-118C>T
ENST00000264228.8:c.-118C>T ENSP00000264228.4:n.-118C>T