Canonical Allele Identifier: CA374888819

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127262943T>A (hg19) ; chr9:g.124500664T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500664T>A , CM000671.2:g.124500664T>A	GRCh38
NC_000009.11:g.127262943T>A , CM000671.1:g.127262943T>A	GRCh37
NC_000009.10:g.126302764T>A	NCBI36
NG_008176.1:g.11757A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.296A>T MANE Select	ENSP00000362690.4:p.Tyr99Phe
ENST00000373587.3:c.39+284A>T	ENSP00000362689.3:n.39+284A>T
ENST00000373588.8:c.296A>T	ENSP00000362690.4:p.Tyr99Phe
ENST00000455734.1:c.296A>T	ENSP00000393245.1:p.Tyr99Phe
ENST00000620110.4:c.296A>T	ENSP00000483309.1:p.Tyr99Phe
NM_004959.4:c.296A>T	NP_004950.2:p.Tyr99Phe
XM_005251871.2:c.296A>T	XP_005251928.1:p.Tyr99Phe
XM_005251872.3:c.35A>T	XP_005251929.1:p.Tyr12Phe
XM_011518455.1:c.296A>T	XP_011516757.1:p.Tyr99Phe
XM_011518456.1:c.296A>T	XP_011516758.1:p.Tyr99Phe
NM_004959.5:c.296A>T MANE Select	NP_004950.2:p.Tyr99Phe