Canonical Allele Identifier: CA551566758
Gene: SRD5A3 HGNC NCBI

Linked Data

dbSNP Id: rs1189792479
gnomAD v2: 4-56212388-C-T
gnomAD v3: 4-55346221-C-T
gnomAD v4: 4-55346221-C-T
MyVariant Identifiers: chr4:g.56212388C>T (hg19) chr4:g.55346221C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55346221C>T , CM000666.2:g.55346221C>T GRCh38
NC_000004.11:g.56212388C>T , CM000666.1:g.56212388C>T GRCh37
NC_000004.10:g.55907145C>T NCBI36
NG_028230.1:g.5001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679836.1:c.-116C>T ENSP00000506601.1:n.-116C>T
ENST00000264228.8:c.-116C>T ENSP00000264228.4:n.-116C>T
NM_024592.4:c.-116C>T NP_078868.1:n.-116C>T
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