Canonical Allele Identifier: CA2785906236

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500566dup , CM000671.2:g.124500566dup	GRCh38
NC_000009.11:g.127262845dup , CM000671.1:g.127262845dup	GRCh37
NC_000009.10:g.126302666dup	NCBI36
NG_008176.1:g.11859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.398dup MANE Select	ENSP00000362690.4:p.Pro134SerfsTer15
ENST00000373587.3:c.40-290dup	ENSP00000362689.3:n.40-290dup
ENST00000373588.8:c.398dup	ENSP00000362690.4:p.Pro134SerfsTer15
ENST00000455734.1:c.398dup	ENSP00000393245.1:p.Pro134SerfsTer15
ENST00000620110.4:c.398dup	ENSP00000483309.1:p.Pro134SerfsTer15
NM_004959.4:c.398dup	NP_004950.2:p.Pro134SerfsTer15
XM_005251871.2:c.398dup	XP_005251928.1:p.Pro134SerfsTer15
XM_005251872.3:c.137dup	XP_005251929.1:p.Pro47SerfsTer15
XM_011518455.1:c.398dup	XP_011516757.1:p.Pro134SerfsTer15
XM_011518456.1:c.398dup	XP_011516758.1:p.Pro134SerfsTer15
NM_004959.5:c.398dup MANE Select	NP_004950.2:p.Pro134SerfsTer15