Canonical Allele Identifier: CA374888242

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500577-A-C
• MyVariant Identifiers: chr9:g.127262856A>C (hg19) ; chr9:g.124500577A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500577A>C , CM000671.2:g.124500577A>C	GRCh38
NC_000009.11:g.127262856A>C , CM000671.1:g.127262856A>C	GRCh37
NC_000009.10:g.126302677A>C	NCBI36
NG_008176.1:g.11844T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.383T>G MANE Select	ENSP00000362690.4:p.Val128Gly
ENST00000373587.3:c.40-305T>G	ENSP00000362689.3:n.40-305T>G
ENST00000373588.8:c.383T>G	ENSP00000362690.4:p.Val128Gly
ENST00000455734.1:c.383T>G	ENSP00000393245.1:p.Val128Gly
ENST00000620110.4:c.383T>G	ENSP00000483309.1:p.Val128Gly
NM_004959.4:c.383T>G	NP_004950.2:p.Val128Gly
XM_005251871.2:c.383T>G	XP_005251928.1:p.Val128Gly
XM_005251872.3:c.122T>G	XP_005251929.1:p.Val41Gly
XM_011518455.1:c.383T>G	XP_011516757.1:p.Val128Gly
XM_011518456.1:c.383T>G	XP_011516758.1:p.Val128Gly
NM_004959.5:c.383T>G MANE Select	NP_004950.2:p.Val128Gly