Canonical Allele Identifier: CA590936745

Gene: NR5A1

Linked Data

• dbSNP Id: rs1370975115
• gnomAD v2: 9-127265775-GC-G
• gnomAD v3: 9-124503496-GC-G
• gnomAD v4: 9-124503496-GC-G
• MyVariant Identifiers: chr9:g.127265776del (hg19) ; chr9:g.124503497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503499del , CM000671.2:g.124503499del	GRCh38
NC_000009.11:g.127265778del , CM000671.1:g.127265778del	GRCh37
NC_000009.10:g.126305599del	NCBI36
NG_008176.1:g.8924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.-15-87del MANE Select	ENSP00000362690.4:n.-15-87del
ENST00000373588.8:c.-15-87del	ENSP00000362690.4:n.-15-87del
ENST00000455734.1:c.-15-87del	ENSP00000393245.1:n.-15-87del
ENST00000620110.4:c.-15-87del	ENSP00000483309.1:n.-15-87del
NM_004959.4:c.-15-87del	NP_004950.2:n.-15-87del
XM_005251871.2:c.-15-87del	XP_005251928.1:n.-15-87del
XM_005251872.3:c.-134-87del	XP_005251929.1:n.-134-87del
XM_011518455.1:c.-15-87del	XP_011516757.1:n.-15-87del
XM_011518456.1:c.-15-87del	XP_011516758.1:n.-15-87del
NM_004959.5:c.-15-87del MANE Select	NP_004950.2:n.-15-87del