Canonical Allele Identifier: CA374886730

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500385-G-A
• MyVariant Identifiers: chr9:g.127262664G>A (hg19) ; chr9:g.124500385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500385G>A , CM000671.2:g.124500385G>A	GRCh38
NC_000009.11:g.127262664G>A , CM000671.1:g.127262664G>A	GRCh37
NC_000009.10:g.126302485G>A	NCBI36
NG_008176.1:g.12036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.575C>T MANE Select	ENSP00000362690.4:p.Ala192Val
ENST00000373587.3:c.40-113C>T	ENSP00000362689.3:n.40-113C>T
ENST00000373588.8:c.575C>T	ENSP00000362690.4:p.Ala192Val
ENST00000620110.4:c.575C>T	ENSP00000483309.1:p.Ala192Val
NM_004959.4:c.575C>T	NP_004950.2:p.Ala192Val
XM_005251871.2:c.575C>T	XP_005251928.1:p.Ala192Val
XM_005251872.3:c.314C>T	XP_005251929.1:p.Ala105Val
XM_011518455.1:c.575C>T	XP_011516757.1:p.Ala192Val
XM_011518456.1:c.575C>T	XP_011516758.1:p.Ala192Val
NM_004959.5:c.575C>T MANE Select	NP_004950.2:p.Ala192Val