Canonical Allele Identifier: CA374882599

Gene: NR5A1

Linked Data

• dbSNP Id: rs1343166085
• gnomAD v2: 9-127255403-T-C
• MyVariant Identifiers: chr9:g.127255403T>C (hg19) ; chr9:g.124493124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493124T>C , CM000671.2:g.124493124T>C	GRCh38
NC_000009.11:g.127255403T>C , CM000671.1:g.127255403T>C	GRCh37
NC_000009.10:g.126295224T>C	NCBI36
NG_008176.1:g.19297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.896A>G MANE Select	ENSP00000362690.4:p.Gln299Arg
ENST00000373587.3:c.248A>G	ENSP00000362689.3:p.Gln83Arg
ENST00000373588.8:c.896A>G	ENSP00000362690.4:p.Gln299Arg
ENST00000620110.4:c.871-1896A>G	ENSP00000483309.1:n.871-1896A>G
NM_004959.4:c.896A>G	NP_004950.2:p.Gln299Arg
XM_005251871.2:c.896A>G	XP_005251928.1:p.Gln299Arg
XM_005251872.3:c.635A>G	XP_005251929.1:p.Gln212Arg
XM_011518455.1:c.896A>G	XP_011516757.1:p.Gln299Arg
XM_011518456.1:c.870+6966A>G	XP_011516758.1:n.870+6966A>G
NM_004959.5:c.896A>G MANE Select	NP_004950.2:p.Gln299Arg