Canonical Allele Identifier: CA5235577
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1158738
ClinVar RCV Id: RCV001502239
dbSNP Id: rs750190008
ExAC: 9:127265588 C / T
gnomAD v2: 9-127265588-C-T
gnomAD v3: 9-124503309-C-T
gnomAD v4: 9-124503309-C-T
COSMIC: COSM1459958
MyVariant Identifiers: chr9:g.127265588C>T (hg19) chr9:g.124503309C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503309C>T , CM000671.2:g.124503309C>T GRCh38
NC_000009.11:g.127265588C>T , CM000671.1:g.127265588C>T GRCh37
NC_000009.10:g.126305409C>T NCBI36
NG_008176.1:g.9112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.87G>A MANE Select ENSP00000362690.4:p.Thr29=
ENST00000373588.8:c.87G>A ENSP00000362690.4:p.Thr29=
ENST00000455734.1:c.87G>A ENSP00000393245.1:p.Thr29=
ENST00000620110.4:c.87G>A ENSP00000483309.1:p.Thr29=
NM_004959.4:c.87G>A NP_004950.2:p.Thr29=
XM_005251871.2:c.87G>A XP_005251928.1:p.Thr29=
XM_005251872.3:c.-33G>A XP_005251929.1:n.-33G>A
XM_011518455.1:c.87G>A XP_011516757.1:p.Thr29=
XM_011518456.1:c.87G>A XP_011516758.1:p.Thr29=
NM_004959.5:c.87G>A MANE Select NP_004950.2:p.Thr29=
Search 100 bp 5'
Search 100 bp 3'