Canonical Allele Identifier: CA128718
Gene: NR5A1 HGNC NCBI
ClinVar RCV:
RCV000022777
ClinVar Variation:
29895
dbSNP:
201095702
gnomAD v2:
9:127262605 C / T
gnomAD v3:
9:124500326 C / T
gnomAD v4:
chr9-124500326-C-T
Joint Max Group AF 0.00041945 (EAS)
Genomes Max Group AF 0.00037995 (EAS)
Exomes Max Group AF 0.00036569 (EAS)
MyVariant.info:
GRCh38 chr9:g.124500326C>T
GRCh37 chr9:g.127262605C>T
Revel Score:
ENST00000373588 (MANE Select) 0.567
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500326C>T , CM000671.2:g.124500326C>T GRCh38
NC_000009.11:g.127262605C>T , CM000671.1:g.127262605C>T GRCh37
NC_000009.10:g.126302426C>T NCBI36
NG_008176.1:g.12095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.634G>A MANE Select ENSP00000362690.4:p.Gly212Ser
ENST00000373587.3:c.40-54G>A ENSP00000362689.3:n.40-54G>A
ENST00000373588.8:c.634G>A ENSP00000362690.4:p.Gly212Ser
ENST00000620110.4:c.634G>A ENSP00000483309.1:p.Gly212Ser
NM_004959.4:c.634G>A NP_004950.2:p.Gly212Ser
XM_005251871.2:c.634G>A XP_005251928.1:p.Gly212Ser
XM_005251872.3:c.373G>A XP_005251929.1:p.Gly125Ser
XM_011518455.1:c.634G>A XP_011516757.1:p.Gly212Ser
XM_011518456.1:c.634G>A XP_011516758.1:p.Gly212Ser
NM_004959.5:c.634G>A MANE Select NP_004950.2:p.Gly212Ser
Search 100 bp 5'
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