Canonical Allele Identifier: CA374882495

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 3061777
• ClinVar RCV Id: RCV003983770
• MyVariant Identifiers: chr9:g.127255391C>T (hg19) ; chr9:g.124493112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493112C>T , CM000671.2:g.124493112C>T	GRCh38
NC_000009.11:g.127255391C>T , CM000671.1:g.127255391C>T	GRCh37
NC_000009.10:g.126295212C>T	NCBI36
NG_008176.1:g.19309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.908G>A MANE Select	ENSP00000362690.4:p.Ser303Asn
ENST00000373587.3:c.260G>A	ENSP00000362689.3:p.Ser87Asn
ENST00000373588.8:c.908G>A	ENSP00000362690.4:p.Ser303Asn
ENST00000620110.4:c.871-1884G>A	ENSP00000483309.1:n.871-1884G>A
NM_004959.4:c.908G>A	NP_004950.2:p.Ser303Asn
XM_005251871.2:c.908G>A	XP_005251928.1:p.Ser303Asn
XM_005251872.3:c.647G>A	XP_005251929.1:p.Ser216Asn
XM_011518455.1:c.908G>A	XP_011516757.1:p.Ser303Asn
XM_011518456.1:c.870+6978G>A	XP_011516758.1:n.870+6978G>A
NM_004959.5:c.908G>A MANE Select	NP_004950.2:p.Ser303Asn