Canonical Allele Identifier: CA374881857

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124493030-C-A
• MyVariant Identifiers: chr9:g.127255309C>A (hg19) ; chr9:g.124493030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493030C>A , CM000671.2:g.124493030C>A	GRCh38
NC_000009.11:g.127255309C>A , CM000671.1:g.127255309C>A	GRCh37
NC_000009.10:g.126295130C>A	NCBI36
NG_008176.1:g.19391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.990G>T MANE Select	ENSP00000362690.4:p.Glu330Asp
ENST00000373587.3:c.342G>T	ENSP00000362689.3:p.Glu114Asp
ENST00000373588.8:c.990G>T	ENSP00000362690.4:p.Glu330Asp
ENST00000620110.4:c.871-1802G>T	ENSP00000483309.1:n.871-1802G>T
NM_004959.4:c.990G>T	NP_004950.2:p.Glu330Asp
XM_005251871.2:c.990G>T	XP_005251928.1:p.Glu330Asp
XM_005251872.3:c.729G>T	XP_005251929.1:p.Glu243Asp
XM_011518455.1:c.990G>T	XP_011516757.1:p.Glu330Asp
XM_011518456.1:c.870+7060G>T	XP_011516758.1:n.870+7060G>T
NM_004959.5:c.990G>T MANE Select	NP_004950.2:p.Glu330Asp