Canonical Allele Identifier: CA467121314

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124493093-G-A
• MyVariant Identifiers: chr9:g.127255372G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493093G>A , CM000671.2:g.124493093G>A	GRCh38
NC_000009.11:g.127255372G>A , CM000671.1:g.127255372G>A	GRCh37
NC_000009.10:g.126295193G>A	NCBI36
NG_008176.1:g.19328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.927C>T MANE Select	ENSP00000362690.4:p.Asp309=
ENST00000373587.3:c.279C>T	ENSP00000362689.3:p.Asp93=
ENST00000373588.8:c.927C>T	ENSP00000362690.4:p.Asp309=
ENST00000620110.4:c.871-1865C>T	ENSP00000483309.1:n.871-1865C>T
NM_004959.4:c.927C>T	NP_004950.2:p.Asp309=
XM_005251871.2:c.927C>T	XP_005251928.1:p.Asp309=
XM_005251872.3:c.666C>T	XP_005251929.1:p.Asp222=
XM_011518455.1:c.927C>T	XP_011516757.1:p.Asp309=
XM_011518456.1:c.870+6997C>T	XP_011516758.1:n.870+6997C>T
NM_004959.5:c.927C>T MANE Select	NP_004950.2:p.Asp309=