Canonical Allele Identifier: CA374882606

Gene: NR5A1

Linked Data

• dbSNP Id: rs1564150329
• gnomAD v4: 9-124493125-G-T
• MyVariant Identifiers: chr9:g.127255404G>T (hg19) ; chr9:g.124493125G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493125G>T , CM000671.2:g.124493125G>T	GRCh38
NC_000009.11:g.127255404G>T , CM000671.1:g.127255404G>T	GRCh37
NC_000009.10:g.126295225G>T	NCBI36
NG_008176.1:g.19296C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.895C>A MANE Select	ENSP00000362690.4:p.Gln299Lys
ENST00000373587.3:c.247C>A	ENSP00000362689.3:p.Gln83Lys
ENST00000373588.8:c.895C>A	ENSP00000362690.4:p.Gln299Lys
ENST00000620110.4:c.871-1897C>A	ENSP00000483309.1:n.871-1897C>A
NM_004959.4:c.895C>A	NP_004950.2:p.Gln299Lys
XM_005251871.2:c.895C>A	XP_005251928.1:p.Gln299Lys
XM_005251872.3:c.634C>A	XP_005251929.1:p.Gln212Lys
XM_011518455.1:c.895C>A	XP_011516757.1:p.Gln299Lys
XM_011518456.1:c.870+6965C>A	XP_011516758.1:n.870+6965C>A
NM_004959.5:c.895C>A MANE Select	NP_004950.2:p.Gln299Lys