Canonical Allele Identifier: CA97479132

Gene: SRD5A3

Linked Data

• dbSNP Id: rs900104150
• gnomAD v2: 4-56212584-G-C
• gnomAD v3: 4-55346417-G-C
• gnomAD v4: 4-55346417-G-C
• MyVariant Identifiers: chr4:g.56212584G>C (hg19) ; chr4:g.55346417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346417G>C , CM000666.2:g.55346417G>C	GRCh38
NC_000004.11:g.56212584G>C , CM000666.1:g.56212584G>C	GRCh37
NC_000004.10:g.55907341G>C	NCBI36
NG_028230.1:g.5197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.81G>C MANE Select	ENSP00000264228.4:p.Leu27=
ENST00000679351.1:c.81G>C	ENSP00000505676.1:p.Leu27=
ENST00000679707.1:c.81G>C	ENSP00000505713.1:p.Leu27=
ENST00000679836.1:c.81G>C	ENSP00000506601.1:p.Leu27=
ENST00000680700.1:c.81G>C	ENSP00000504926.1:p.Leu27=
ENST00000264228.8:c.81G>C	ENSP00000264228.4:p.Leu27=
ENST00000505210.1:c.6G>C	ENSP00000424714.1:p.Leu2=
NM_024592.4:c.81G>C	NP_078868.1:p.Leu27=
XM_005265766.2:c.81G>C	XP_005265823.1:p.Leu27=
XM_005265767.2:c.81G>C	XP_005265824.1:p.Leu27=
XM_005265766.4:c.81G>C	XP_005265823.1:p.Leu27=
XM_005265767.3:c.81G>C	XP_005265824.1:p.Leu27=
NM_024592.5:c.81G>C MANE Select	NP_078868.1:p.Leu27=