Canonical Allele Identifier: CA374887494

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 3201978
• ClinVar RCV Id: RCV004491323
• gnomAD v4: 9-124500472-T-A
• MyVariant Identifiers: chr9:g.127262751T>A (hg19) ; chr9:g.124500472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500472T>A , CM000671.2:g.124500472T>A	GRCh38
NC_000009.11:g.127262751T>A , CM000671.1:g.127262751T>A	GRCh37
NC_000009.10:g.126302572T>A	NCBI36
NG_008176.1:g.11949A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.488A>T MANE Select	ENSP00000362690.4:p.Asp163Val
ENST00000373587.3:c.40-200A>T	ENSP00000362689.3:n.40-200A>T
ENST00000373588.8:c.488A>T	ENSP00000362690.4:p.Asp163Val
ENST00000455734.1:c.488A>T	ENSP00000393245.1:p.Asp163Val
ENST00000620110.4:c.488A>T	ENSP00000483309.1:p.Asp163Val
NM_004959.4:c.488A>T	NP_004950.2:p.Asp163Val
XM_005251871.2:c.488A>T	XP_005251928.1:p.Asp163Val
XM_005251872.3:c.227A>T	XP_005251929.1:p.Asp76Val
XM_011518455.1:c.488A>T	XP_011516757.1:p.Asp163Val
XM_011518456.1:c.488A>T	XP_011516758.1:p.Asp163Val
NM_004959.5:c.488A>T MANE Select	NP_004950.2:p.Asp163Val