Canonical Allele Identifier: CA645372871

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 436031
• ClinVar RCV Id: RCV000500900
• dbSNP Id: rs1554721866

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503117_124503118delinsAA , CM000671.2:g.124503117_124503118delinsAA	GRCh38
NC_000009.11:g.127265396_127265397delinsAA , CM000671.1:g.127265396_127265397delinsAA	GRCh37
NC_000009.10:g.126305217_126305218delinsAA	NCBI36
NG_008176.1:g.9303_9304delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.205_206delinsTT MANE Select	ENSP00000362690.4:p.Arg69Phe
ENST00000373588.8:c.205_206delinsTT	ENSP00000362690.4:p.Arg69Phe
ENST00000455734.1:c.205_206delinsTT	ENSP00000393245.1:p.Arg69Phe
ENST00000620110.4:c.205_206delinsTT	ENSP00000483309.1:p.Arg69Phe
NM_004959.4:c.205_206delinsTT	NP_004950.2:p.Arg69Phe
XM_005251871.2:c.205_206delinsTT	XP_005251928.1:p.Arg69Phe
XM_005251872.3:c.-18+176_-18+177delinsTT	XP_005251929.1:n.-18+176_-18+177delinsTT
XM_011518455.1:c.205_206delinsTT	XP_011516757.1:p.Arg69Phe
XM_011518456.1:c.205_206delinsTT	XP_011516758.1:p.Arg69Phe
NM_004959.5:c.205_206delinsTT MANE Select	NP_004950.2:p.Arg69Phe