Canonical Allele Identifier: CA467208230

Gene: NR5A1

Linked Data

• dbSNP Id: rs1345287513
• gnomAD v2: 9-127262906-T-C
• gnomAD v4: 9-124500627-T-C
• MyVariant Identifiers: chr9:g.127262906T>C (hg19) ; chr9:g.124500627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500627T>C , CM000671.2:g.124500627T>C	GRCh38
NC_000009.11:g.127262906T>C , CM000671.1:g.127262906T>C	GRCh37
NC_000009.10:g.126302727T>C	NCBI36
NG_008176.1:g.11794A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.333A>G MANE Select	ENSP00000362690.4:p.Ala111=
ENST00000373587.3:c.39+321A>G	ENSP00000362689.3:n.39+321A>G
ENST00000373588.8:c.333A>G	ENSP00000362690.4:p.Ala111=
ENST00000455734.1:c.333A>G	ENSP00000393245.1:p.Ala111=
ENST00000620110.4:c.333A>G	ENSP00000483309.1:p.Ala111=
NM_004959.4:c.333A>G	NP_004950.2:p.Ala111=
XM_005251871.2:c.333A>G	XP_005251928.1:p.Ala111=
XM_005251872.3:c.72A>G	XP_005251929.1:p.Ala24=
XM_011518455.1:c.333A>G	XP_011516757.1:p.Ala111=
XM_011518456.1:c.333A>G	XP_011516758.1:p.Ala111=
NM_004959.5:c.333A>G MANE Select	NP_004950.2:p.Ala111=