Canonical Allele Identifier: CA356956976

Gene: SRD5A3

Linked Data

• MyVariant Identifiers: chr4:g.56225526T>C (hg19) ; chr4:g.55359359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359359T>C , CM000666.2:g.55359359T>C	GRCh38
NC_000004.11:g.56225526T>C , CM000666.1:g.56225526T>C	GRCh37
NC_000004.10:g.55920283T>C	NCBI36
NG_028230.1:g.18139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.235T>C MANE Select	ENSP00000264228.4:p.Phe79Leu
ENST00000678717.1:n.132T>C
ENST00000679351.1:c.235T>C	ENSP00000505676.1:p.Phe79Leu
ENST00000679707.1:c.235T>C	ENSP00000505713.1:p.Phe79Leu
ENST00000679836.1:c.235T>C	ENSP00000506601.1:p.Phe79Leu
ENST00000680700.1:c.235T>C	ENSP00000504926.1:p.Phe79Leu
ENST00000264228.8:c.235T>C	ENSP00000264228.4:p.Phe79Leu
ENST00000505210.1:c.160T>C	ENSP00000424714.1:p.Phe54Leu
ENST00000514398.1:n.244T>C
NM_024592.4:c.235T>C	NP_078868.1:p.Phe79Leu
XM_005265766.2:c.235T>C	XP_005265823.1:p.Phe79Leu
XM_005265767.2:c.235T>C	XP_005265824.1:p.Phe79Leu
XM_005265766.4:c.235T>C	XP_005265823.1:p.Phe79Leu
XM_005265767.3:c.235T>C	XP_005265824.1:p.Phe79Leu
XM_017008601.1:c.100T>C	XP_016864090.1:p.Phe34Leu
NM_024592.5:c.235T>C MANE Select	NP_078868.1:p.Phe79Leu