Canonical Allele Identifier: CA5235510

Gene: NR5A1

Linked Data

• dbSNP Id: rs548473217
• ExAC: 9:127262987 G / A
• gnomAD v2: 9-127262987-G-A
• gnomAD v3: 9-124500708-G-A
• gnomAD v4: 9-124500708-G-A
• MyVariant Identifiers: chr9:g.127262987G>A (hg19) ; chr9:g.124500708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500708G>A , CM000671.2:g.124500708G>A	GRCh38
NC_000009.11:g.127262987G>A , CM000671.1:g.127262987G>A	GRCh37
NC_000009.10:g.126302808G>A	NCBI36
NG_008176.1:g.11713C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.252C>T MANE Select	ENSP00000362690.4:p.Arg84=
ENST00000373587.3:c.39+240C>T	ENSP00000362689.3:n.39+240C>T
ENST00000373588.8:c.252C>T	ENSP00000362690.4:p.Arg84=
ENST00000455734.1:c.252C>T	ENSP00000393245.1:p.Arg84=
ENST00000620110.4:c.252C>T	ENSP00000483309.1:p.Arg84=
NM_004959.4:c.252C>T	NP_004950.2:p.Arg84=
XM_005251871.2:c.252C>T	XP_005251928.1:p.Arg84=
XM_005251872.3:c.-10C>T	XP_005251929.1:n.-10C>T
XM_011518455.1:c.252C>T	XP_011516757.1:p.Arg84=
XM_011518456.1:c.252C>T	XP_011516758.1:p.Arg84=
NM_004959.5:c.252C>T MANE Select	NP_004950.2:p.Arg84=