Canonical Allele Identifier: CA374882615

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127255406A>T (hg19) ; chr9:g.124493127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493127A>T , CM000671.2:g.124493127A>T	GRCh38
NC_000009.11:g.127255406A>T , CM000671.1:g.127255406A>T	GRCh37
NC_000009.10:g.126295227A>T	NCBI36
NG_008176.1:g.19294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.893T>A MANE Select	ENSP00000362690.4:p.Leu298Gln
ENST00000373587.3:c.245T>A	ENSP00000362689.3:p.Leu82Gln
ENST00000373588.8:c.893T>A	ENSP00000362690.4:p.Leu298Gln
ENST00000620110.4:c.871-1899T>A	ENSP00000483309.1:n.871-1899T>A
NM_004959.4:c.893T>A	NP_004950.2:p.Leu298Gln
XM_005251871.2:c.893T>A	XP_005251928.1:p.Leu298Gln
XM_005251872.3:c.632T>A	XP_005251929.1:p.Leu211Gln
XM_011518455.1:c.893T>A	XP_011516757.1:p.Leu298Gln
XM_011518456.1:c.870+6963T>A	XP_011516758.1:n.870+6963T>A
NM_004959.5:c.893T>A MANE Select	NP_004950.2:p.Leu298Gln