Canonical Allele Identifier: CA2925250

Gene: SRD5A3

Linked Data

• dbSNP Id: rs543050183
• ExAC: 4:56225550 A / G
• gnomAD v2: 4-56225550-A-G
• gnomAD v3: 4-55359383-A-G
• gnomAD v4: 4-55359383-A-G
• MyVariant Identifiers: chr4:g.56225550A>G (hg19) ; chr4:g.55359383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359383A>G , CM000666.2:g.55359383A>G	GRCh38
NC_000004.11:g.56225550A>G , CM000666.1:g.56225550A>G	GRCh37
NC_000004.10:g.55920307A>G	NCBI36
NG_028230.1:g.18163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.259A>G MANE Select	ENSP00000264228.4:p.Asn87Asp
ENST00000678717.1:n.156A>G
ENST00000679351.1:c.259A>G	ENSP00000505676.1:p.Asn87Asp
ENST00000679707.1:c.259A>G	ENSP00000505713.1:p.Asn87Asp
ENST00000679836.1:c.259A>G	ENSP00000506601.1:p.Asn87Asp
ENST00000680700.1:c.259A>G	ENSP00000504926.1:p.Asn87Asp
ENST00000264228.8:c.259A>G	ENSP00000264228.4:p.Asn87Asp
ENST00000505210.1:c.184A>G	ENSP00000424714.1:p.Asn62Asp
ENST00000514398.1:n.268A>G
NM_024592.4:c.259A>G	NP_078868.1:p.Asn87Asp
XM_005265766.2:c.259A>G	XP_005265823.1:p.Asn87Asp
XM_005265767.2:c.259A>G	XP_005265824.1:p.Asn87Asp
XM_005265766.4:c.259A>G	XP_005265823.1:p.Asn87Asp
XM_005265767.3:c.259A>G	XP_005265824.1:p.Asn87Asp
XM_017008601.1:c.124A>G	XP_016864090.1:p.Asn42Asp
NM_024592.5:c.259A>G MANE Select	NP_078868.1:p.Asn87Asp