Canonical Allele Identifier: CA5235500

Gene: NR5A1

Linked Data

• dbSNP Id: rs758926446
• ExAC: 9:127262898 C / T
• gnomAD v2: 9-127262898-C-T
• gnomAD v3: 9-124500619-C-T
• gnomAD v4: 9-124500619-C-T
• COSMIC: COSM4708053
• MyVariant Identifiers: chr9:g.127262898C>T (hg19) ; chr9:g.124500619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500619C>T , CM000671.2:g.124500619C>T	GRCh38
NC_000009.11:g.127262898C>T , CM000671.1:g.127262898C>T	GRCh37
NC_000009.10:g.126302719C>T	NCBI36
NG_008176.1:g.11802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.341G>A MANE Select	ENSP00000362690.4:p.Arg114Gln
ENST00000373587.3:c.39+329G>A	ENSP00000362689.3:n.39+329G>A
ENST00000373588.8:c.341G>A	ENSP00000362690.4:p.Arg114Gln
ENST00000455734.1:c.341G>A	ENSP00000393245.1:p.Arg114Gln
ENST00000620110.4:c.341G>A	ENSP00000483309.1:p.Arg114Gln
NM_004959.4:c.341G>A	NP_004950.2:p.Arg114Gln
XM_005251871.2:c.341G>A	XP_005251928.1:p.Arg114Gln
XM_005251872.3:c.80G>A	XP_005251929.1:p.Arg27Gln
XM_011518455.1:c.341G>A	XP_011516757.1:p.Arg114Gln
XM_011518456.1:c.341G>A	XP_011516758.1:p.Arg114Gln
NM_004959.5:c.341G>A MANE Select	NP_004950.2:p.Arg114Gln