Canonical Allele Identifier: CA5235469
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259591
ClinVar RCV Id: RCV000251828 RCV001523405 RCV001660271
dbSNP Id: rs1110061
ExAC: 9:127262802 C / G
gnomAD v2: 9-127262802-C-G
gnomAD v3: 9-124500523-C-G
gnomAD v4: 9-124500523-C-G
COSMIC: COSM3763632
MyVariant Identifiers: chr9:g.127262802C>G (hg19) chr9:g.124500523C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500523C>G , CM000671.2:g.124500523C>G GRCh38
NC_000009.11:g.127262802C>G , CM000671.1:g.127262802C>G GRCh37
NC_000009.10:g.126302623C>G NCBI36
NG_008176.1:g.11898G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.437G>C MANE Select ENSP00000362690.4:p.Gly146Ala
ENST00000373587.3:c.40-251G>C ENSP00000362689.3:n.40-251G>C
ENST00000373588.8:c.437G>C ENSP00000362690.4:p.Gly146Ala
ENST00000455734.1:c.437G>C ENSP00000393245.1:p.Gly146Ala
ENST00000620110.4:c.437G>C ENSP00000483309.1:p.Gly146Ala
NM_004959.4:c.437G>C NP_004950.2:p.Gly146Ala
XM_005251871.2:c.437G>C XP_005251928.1:p.Gly146Ala
XM_005251872.3:c.176G>C XP_005251929.1:p.Gly59Ala
XM_011518455.1:c.437G>C XP_011516757.1:p.Gly146Ala
XM_011518456.1:c.437G>C XP_011516758.1:p.Gly146Ala
NM_004959.5:c.437G>C MANE Select NP_004950.2:p.Gly146Ala
Search 100 bp 5'
Search 100 bp 3'