Canonical Allele Identifier: CA374890821

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 1341694
• ClinVar RCV Id: RCV002275228
• dbSNP Id: rs2131290040
• MyVariant Identifiers: chr9:g.127265656C>A (hg19) ; chr9:g.124503377C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503377C>A , CM000671.2:g.124503377C>A	GRCh38
NC_000009.11:g.127265656C>A , CM000671.1:g.127265656C>A	GRCh37
NC_000009.10:g.126305477C>A	NCBI36
NG_008176.1:g.9044G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.19G>T MANE Select	ENSP00000362690.4:p.Glu7Ter
ENST00000373588.8:c.19G>T	ENSP00000362690.4:p.Glu7Ter
ENST00000455734.1:c.19G>T	ENSP00000393245.1:p.Glu7Ter
ENST00000620110.4:c.19G>T	ENSP00000483309.1:p.Glu7Ter
NM_004959.4:c.19G>T	NP_004950.2:p.Glu7Ter
XM_005251871.2:c.19G>T	XP_005251928.1:p.Glu7Ter
XM_005251872.3:c.-101G>T	XP_005251929.1:n.-101G>T
XM_011518455.1:c.19G>T	XP_011516757.1:p.Glu7Ter
XM_011518456.1:c.19G>T	XP_011516758.1:p.Glu7Ter
NM_004959.5:c.19G>T MANE Select	NP_004950.2:p.Glu7Ter