Canonical Allele Identifier: CA5235578

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 784153
• ClinVar RCV Id: RCV000965798
• dbSNP Id: rs139733398
• ExAC: 9:127265591 G / C
• gnomAD v2: 9-127265591-G-C
• gnomAD v3: 9-124503312-G-C
• gnomAD v4: 9-124503312-G-C
• MyVariant Identifiers: chr9:g.127265591G>C (hg19) ; chr9:g.124503312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503312G>C , CM000671.2:g.124503312G>C	GRCh38
NC_000009.11:g.127265591G>C , CM000671.1:g.127265591G>C	GRCh37
NC_000009.10:g.126305412G>C	NCBI36
NG_008176.1:g.9109C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.84C>G MANE Select	ENSP00000362690.4:p.Leu28=
ENST00000373588.8:c.84C>G	ENSP00000362690.4:p.Leu28=
ENST00000455734.1:c.84C>G	ENSP00000393245.1:p.Leu28=
ENST00000620110.4:c.84C>G	ENSP00000483309.1:p.Leu28=
NM_004959.4:c.84C>G	NP_004950.2:p.Leu28=
XM_005251871.2:c.84C>G	XP_005251928.1:p.Leu28=
XM_005251872.3:c.-36C>G	XP_005251929.1:n.-36C>G
XM_011518455.1:c.84C>G	XP_011516757.1:p.Leu28=
XM_011518456.1:c.84C>G	XP_011516758.1:p.Leu28=
NM_004959.5:c.84C>G MANE Select	NP_004950.2:p.Leu28=