Canonical Allele Identifier: CA034644
Gene: NR5A1 HGNC NCBI
ClinVar RCV:
RCV001551809
RCV003105833
RCV003977699
ClinVar Variation:
242720
dbSNP:
200749741
gnomAD v2:
9:127262853 G / A
gnomAD v3:
9:124500574 G / A
gnomAD v4:
chr9-124500574-G-A
Joint Max Group AF 0.00241308 (AFR)
Genomes Max Group AF 0.00224443 (AFR)
Exomes Max Group AF 0.00234906 (AFR)
MyVariant.info:
GRCh38 chr9:g.124500574G>A
GRCh37 chr9:g.127262853G>A
Revel Score:
ENST00000373588 (MANE Select) 0.363
ENST00000455734 0.363
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500574G>A , CM000671.2:g.124500574G>A GRCh38
NC_000009.11:g.127262853G>A , CM000671.1:g.127262853G>A GRCh37
NC_000009.10:g.126302674G>A NCBI36
NG_008176.1:g.11847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.386C>T MANE Select ENSP00000362690.4:p.Pro129Leu
ENST00000373587.3:c.40-302C>T ENSP00000362689.3:n.40-302C>T
ENST00000373588.8:c.386C>T ENSP00000362690.4:p.Pro129Leu
ENST00000455734.1:c.386C>T ENSP00000393245.1:p.Pro129Leu
ENST00000620110.4:c.386C>T ENSP00000483309.1:p.Pro129Leu
NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu
XM_005251871.2:c.386C>T XP_005251928.1:p.Pro129Leu
XM_005251872.3:c.125C>T XP_005251929.1:p.Pro42Leu
XM_011518455.1:c.386C>T XP_011516757.1:p.Pro129Leu
XM_011518456.1:c.386C>T XP_011516758.1:p.Pro129Leu
NM_004959.5:c.386C>T MANE Select NP_004950.2:p.Pro129Leu
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