Canonical Allele Identifier: CA551566761

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1305264868
• gnomAD v2: 4-56212395-A-C
• gnomAD v3: 4-55346228-A-C
• gnomAD v4: 4-55346228-A-C
• MyVariant Identifiers: chr4:g.56212395A>C (hg19) ; chr4:g.55346228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346228A>C , CM000666.2:g.55346228A>C	GRCh38
NC_000004.11:g.56212395A>C , CM000666.1:g.56212395A>C	GRCh37
NC_000004.10:g.55907152A>C	NCBI36
NG_028230.1:g.5008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679707.1:c.-109A>C	ENSP00000505713.1:n.-109A>C
ENST00000679836.1:c.-109A>C	ENSP00000506601.1:n.-109A>C
ENST00000264228.8:c.-109A>C	ENSP00000264228.4:n.-109A>C
NM_024592.4:c.-109A>C	NP_078868.1:n.-109A>C
XM_005265767.3:c.-109A>C	XP_005265824.1:n.-109A>C