Canonical Allele Identifier: CA551566765

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1215499759
• gnomAD v2: 4-56212419-C-A
• gnomAD v3: 4-55346252-C-A
• gnomAD v4: 4-55346252-C-A
• MyVariant Identifiers: chr4:g.56212419C>A (hg19) ; chr4:g.55346252C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346252C>A , CM000666.2:g.55346252C>A	GRCh38
NC_000004.11:g.56212419C>A , CM000666.1:g.56212419C>A	GRCh37
NC_000004.10:g.55907176C>A	NCBI36
NG_028230.1:g.5032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.-85C>A MANE Select	ENSP00000264228.4:n.-85C>A
ENST00000679707.1:c.-85C>A	ENSP00000505713.1:n.-85C>A
ENST00000679836.1:c.-85C>A	ENSP00000506601.1:n.-85C>A
ENST00000264228.8:c.-85C>A	ENSP00000264228.4:n.-85C>A
NM_024592.4:c.-85C>A	NP_078868.1:n.-85C>A
XM_005265766.2:c.-85C>A	XP_005265823.1:n.-85C>A
XM_005265767.2:c.-85C>A	XP_005265824.1:n.-85C>A
XM_005265766.4:c.-85C>A	XP_005265823.1:n.-85C>A
XM_005265767.3:c.-85C>A	XP_005265824.1:n.-85C>A
NM_024592.5:c.-85C>A MANE Select	NP_078868.1:n.-85C>A