Canonical Allele Identifier: CA5235501

Gene: NR5A1

Linked Data

• dbSNP Id: rs769207009
• ExAC: 9:127262899 G / A
• gnomAD v2: 9-127262899-G-A
• gnomAD v3: 9-124500620-G-A
• gnomAD v4: 9-124500620-G-A
• COSMIC: COSM1105074
• MyVariant Identifiers: chr9:g.127262899G>A (hg19) ; chr9:g.124500620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500620G>A , CM000671.2:g.124500620G>A	GRCh38
NC_000009.11:g.127262899G>A , CM000671.1:g.127262899G>A	GRCh37
NC_000009.10:g.126302720G>A	NCBI36
NG_008176.1:g.11801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.340C>T MANE Select	ENSP00000362690.4:p.Arg114Trp
ENST00000373587.3:c.39+328C>T	ENSP00000362689.3:n.39+328C>T
ENST00000373588.8:c.340C>T	ENSP00000362690.4:p.Arg114Trp
ENST00000455734.1:c.340C>T	ENSP00000393245.1:p.Arg114Trp
ENST00000620110.4:c.340C>T	ENSP00000483309.1:p.Arg114Trp
NM_004959.4:c.340C>T	NP_004950.2:p.Arg114Trp
XM_005251871.2:c.340C>T	XP_005251928.1:p.Arg114Trp
XM_005251872.3:c.79C>T	XP_005251929.1:p.Arg27Trp
XM_011518455.1:c.340C>T	XP_011516757.1:p.Arg114Trp
XM_011518456.1:c.340C>T	XP_011516758.1:p.Arg114Trp
NM_004959.5:c.340C>T MANE Select	NP_004950.2:p.Arg114Trp