Canonical Allele Identifier: CA374881866

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127255310T>A (hg19) ; chr9:g.124493031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493031T>A , CM000671.2:g.124493031T>A	GRCh38
NC_000009.11:g.127255310T>A , CM000671.1:g.127255310T>A	GRCh37
NC_000009.10:g.126295131T>A	NCBI36
NG_008176.1:g.19390A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.989A>T MANE Select	ENSP00000362690.4:p.Glu330Val
ENST00000373587.3:c.341A>T	ENSP00000362689.3:p.Glu114Val
ENST00000373588.8:c.989A>T	ENSP00000362690.4:p.Glu330Val
ENST00000620110.4:c.871-1803A>T	ENSP00000483309.1:n.871-1803A>T
NM_004959.4:c.989A>T	NP_004950.2:p.Glu330Val
XM_005251871.2:c.989A>T	XP_005251928.1:p.Glu330Val
XM_005251872.3:c.728A>T	XP_005251929.1:p.Glu243Val
XM_011518455.1:c.989A>T	XP_011516757.1:p.Glu330Val
XM_011518456.1:c.870+7059A>T	XP_011516758.1:n.870+7059A>T
NM_004959.5:c.989A>T MANE Select	NP_004950.2:p.Glu330Val