Canonical Allele Identifier: CA122718
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12803
ClinVar RCV Id: RCV000013647
dbSNP Id: rs104894120

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124482834A>T , CM000671.2:g.124482834A>T GRCh38
NC_000009.11:g.127245113A>T , CM000671.1:g.127245113A>T GRCh37
NC_000009.10:g.126284934A>T NCBI36
NG_008176.1:g.29587T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.1310T>A MANE Select ENSP00000362690.4:p.Leu437Gln
ENST00000373587.3:c.662T>A ENSP00000362689.3:p.Leu221Gln
ENST00000373588.8:c.1310T>A ENSP00000362690.4:p.Leu437Gln
ENST00000620110.4:c.1190T>A ENSP00000483309.1:p.Leu397Gln
NM_004959.4:c.1310T>A NP_004950.2:p.Leu437Gln
XM_005251871.2:c.1310T>A XP_005251928.1:p.Leu437Gln
XM_005251872.3:c.1049T>A XP_005251929.1:p.Leu350Gln
XM_011518455.1:c.1310T>A XP_011516757.1:p.Leu437Gln
NM_004959.5:c.1310T>A MANE Select NP_004950.2:p.Leu437Gln