Canonical Allele Identifier: CA467208135

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500540-C-A
• MyVariant Identifiers: chr9:g.127262819C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500540C>A , CM000671.2:g.124500540C>A	GRCh38
NC_000009.11:g.127262819C>A , CM000671.1:g.127262819C>A	GRCh37
NC_000009.10:g.126302640C>A	NCBI36
NG_008176.1:g.11881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.420G>T MANE Select	ENSP00000362690.4:p.Leu140=
ENST00000373587.3:c.40-268G>T	ENSP00000362689.3:n.40-268G>T
ENST00000373588.8:c.420G>T	ENSP00000362690.4:p.Leu140=
ENST00000455734.1:c.420G>T	ENSP00000393245.1:p.Leu140=
ENST00000620110.4:c.420G>T	ENSP00000483309.1:p.Leu140=
NM_004959.4:c.420G>T	NP_004950.2:p.Leu140=
XM_005251871.2:c.420G>T	XP_005251928.1:p.Leu140=
XM_005251872.3:c.159G>T	XP_005251929.1:p.Leu53=
XM_011518455.1:c.420G>T	XP_011516757.1:p.Leu140=
XM_011518456.1:c.420G>T	XP_011516758.1:p.Leu140=
NM_004959.5:c.420G>T MANE Select	NP_004950.2:p.Leu140=