Canonical Allele Identifier: CA97479135

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1045114615
• gnomAD v3: 4-55346434-A-T
• gnomAD v4: 4-55346434-A-T
• MyVariant Identifiers: chr4:g.56212601A>T (hg19) ; chr4:g.55346434A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346434A>T , CM000666.2:g.55346434A>T	GRCh38
NC_000004.11:g.56212601A>T , CM000666.1:g.56212601A>T	GRCh37
NC_000004.10:g.55907358A>T	NCBI36
NG_028230.1:g.5214A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.98A>T MANE Select	ENSP00000264228.4:p.Gln33Leu
ENST00000679351.1:c.98A>T	ENSP00000505676.1:p.Gln33Leu
ENST00000679707.1:c.98A>T	ENSP00000505713.1:p.Gln33Leu
ENST00000679836.1:c.98A>T	ENSP00000506601.1:p.Gln33Leu
ENST00000680700.1:c.98A>T	ENSP00000504926.1:p.Gln33Leu
ENST00000264228.8:c.98A>T	ENSP00000264228.4:p.Gln33Leu
ENST00000505210.1:c.23A>T	ENSP00000424714.1:p.Gln8Leu
NM_024592.4:c.98A>T	NP_078868.1:p.Gln33Leu
XM_005265766.2:c.98A>T	XP_005265823.1:p.Gln33Leu
XM_005265767.2:c.98A>T	XP_005265824.1:p.Gln33Leu
XM_005265766.4:c.98A>T	XP_005265823.1:p.Gln33Leu
XM_005265767.3:c.98A>T	XP_005265824.1:p.Gln33Leu
NM_024592.5:c.98A>T MANE Select	NP_078868.1:p.Gln33Leu