Canonical Allele Identifier: CA356957220

Gene: SRD5A3

Linked Data

• MyVariant Identifiers: chr4:g.56225641C>A (hg19) ; chr4:g.55359474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359474C>A , CM000666.2:g.55359474C>A	GRCh38
NC_000004.11:g.56225641C>A , CM000666.1:g.56225641C>A	GRCh37
NC_000004.10:g.55920398C>A	NCBI36
NG_028230.1:g.18254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.350C>A MANE Select	ENSP00000264228.4:p.Ala117Glu
ENST00000677177.2:c.63C>A
ENST00000678717.1:n.247C>A
ENST00000679351.1:c.350C>A	ENSP00000505676.1:p.Ala117Glu
ENST00000679707.1:c.350C>A	ENSP00000505713.1:p.Ala117Glu
ENST00000679836.1:c.350C>A	ENSP00000506601.1:p.Ala117Glu
ENST00000680700.1:c.350C>A	ENSP00000504926.1:p.Ala117Glu
ENST00000264228.8:c.350C>A	ENSP00000264228.4:p.Ala117Glu
ENST00000505210.1:c.275C>A	ENSP00000424714.1:p.Ala92Glu
ENST00000514398.1:n.359C>A
NM_024592.4:c.350C>A	NP_078868.1:p.Ala117Glu
XM_005265766.2:c.350C>A	XP_005265823.1:p.Ala117Glu
XM_005265767.2:c.350C>A	XP_005265824.1:p.Ala117Glu
XM_005265766.4:c.350C>A	XP_005265823.1:p.Ala117Glu
XM_005265767.3:c.350C>A	XP_005265824.1:p.Ala117Glu
XM_017008601.1:c.215C>A	XP_016864090.1:p.Ala72Glu
NM_024592.5:c.350C>A MANE Select	NP_078868.1:p.Ala117Glu