Canonical Allele Identifier: CA374882546

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127255397C>A (hg19) ; chr9:g.124493118C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493118C>A , CM000671.2:g.124493118C>A	GRCh38
NC_000009.11:g.127255397C>A , CM000671.1:g.127255397C>A	GRCh37
NC_000009.10:g.126295218C>A	NCBI36
NG_008176.1:g.19303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.902G>T MANE Select	ENSP00000362690.4:p.Cys301Phe
ENST00000373587.3:c.254G>T	ENSP00000362689.3:p.Cys85Phe
ENST00000373588.8:c.902G>T	ENSP00000362690.4:p.Cys301Phe
ENST00000620110.4:c.871-1890G>T	ENSP00000483309.1:n.871-1890G>T
NM_004959.4:c.902G>T	NP_004950.2:p.Cys301Phe
XM_005251871.2:c.902G>T	XP_005251928.1:p.Cys301Phe
XM_005251872.3:c.641G>T	XP_005251929.1:p.Cys214Phe
XM_011518455.1:c.902G>T	XP_011516757.1:p.Cys301Phe
XM_011518456.1:c.870+6972G>T	XP_011516758.1:n.870+6972G>T
NM_004959.5:c.902G>T MANE Select	NP_004950.2:p.Cys301Phe