Canonical Allele Identifier: CA5235584
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2049643
ClinVar RCV Id: RCV002937197
dbSNP Id: rs142402038
ExAC: 9:127265642 C / T
gnomAD v2: 9-127265642-C-T
gnomAD v3: 9-124503363-C-T
gnomAD v4: 9-124503363-C-T
MyVariant Identifiers: chr9:g.127265642C>T (hg19) chr9:g.124503363C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503363C>T , CM000671.2:g.124503363C>T GRCh38
NC_000009.11:g.127265642C>T , CM000671.1:g.127265642C>T GRCh37
NC_000009.10:g.126305463C>T NCBI36
NG_008176.1:g.9058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.33G>A MANE Select ENSP00000362690.4:p.Glu11=
ENST00000373588.8:c.33G>A ENSP00000362690.4:p.Glu11=
ENST00000455734.1:c.33G>A ENSP00000393245.1:p.Glu11=
ENST00000620110.4:c.33G>A ENSP00000483309.1:p.Glu11=
NM_004959.4:c.33G>A NP_004950.2:p.Glu11=
XM_005251871.2:c.33G>A XP_005251928.1:p.Glu11=
XM_005251872.3:c.-87G>A XP_005251929.1:n.-87G>A
XM_011518455.1:c.33G>A XP_011516757.1:p.Glu11=
XM_011518456.1:c.33G>A XP_011516758.1:p.Glu11=
NM_004959.5:c.33G>A MANE Select NP_004950.2:p.Glu11=
Search 100 bp 5'
Search 100 bp 3'