Canonical Allele Identifier: CA467208279

Gene: NR5A1

Linked Data

• dbSNP Id: rs1832457407
• MyVariant Identifiers: chr9:g.127262951C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500672C>T , CM000671.2:g.124500672C>T	GRCh38
NC_000009.11:g.127262951C>T , CM000671.1:g.127262951C>T	GRCh37
NC_000009.10:g.126302772C>T	NCBI36
NG_008176.1:g.11749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.288G>A MANE Select	ENSP00000362690.4:p.Gly96=
ENST00000373587.3:c.39+276G>A	ENSP00000362689.3:n.39+276G>A
ENST00000373588.8:c.288G>A	ENSP00000362690.4:p.Gly96=
ENST00000455734.1:c.288G>A	ENSP00000393245.1:p.Gly96=
ENST00000620110.4:c.288G>A	ENSP00000483309.1:p.Gly96=
NM_004959.4:c.288G>A	NP_004950.2:p.Gly96=
XM_005251871.2:c.288G>A	XP_005251928.1:p.Gly96=
XM_005251872.3:c.27G>A	XP_005251929.1:p.Gly9=
XM_011518455.1:c.288G>A	XP_011516757.1:p.Gly96=
XM_011518456.1:c.288G>A	XP_011516758.1:p.Gly96=
NM_004959.5:c.288G>A MANE Select	NP_004950.2:p.Gly96=