Canonical Allele Identifier: CA374885314

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500136-G-C
• MyVariant Identifiers: chr9:g.127262415G>C (hg19) ; chr9:g.124500136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500136G>C , CM000671.2:g.124500136G>C	GRCh38
NC_000009.11:g.127262415G>C , CM000671.1:g.127262415G>C	GRCh37
NC_000009.10:g.126302236G>C	NCBI36
NG_008176.1:g.12285C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.824C>G MANE Select	ENSP00000362690.4:p.Ser275Cys
ENST00000373587.3:c.176C>G	ENSP00000362689.3:p.Ser59Cys
ENST00000373588.8:c.824C>G	ENSP00000362690.4:p.Ser275Cys
ENST00000620110.4:c.824C>G	ENSP00000483309.1:p.Ser275Cys
NM_004959.4:c.824C>G	NP_004950.2:p.Ser275Cys
XM_005251871.2:c.824C>G	XP_005251928.1:p.Ser275Cys
XM_005251872.3:c.563C>G	XP_005251929.1:p.Ser188Cys
XM_011518455.1:c.824C>G	XP_011516757.1:p.Ser275Cys
XM_011518456.1:c.824C>G	XP_011516758.1:p.Ser275Cys
NM_004959.5:c.824C>G MANE Select	NP_004950.2:p.Ser275Cys