Canonical Allele Identifier: CA374882531

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127255394C>A (hg19) ; chr9:g.124493115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493115C>A , CM000671.2:g.124493115C>A	GRCh38
NC_000009.11:g.127255394C>A , CM000671.1:g.127255394C>A	GRCh37
NC_000009.10:g.126295215C>A	NCBI36
NG_008176.1:g.19306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.905G>T MANE Select	ENSP00000362690.4:p.Trp302Leu
ENST00000373587.3:c.257G>T	ENSP00000362689.3:p.Trp86Leu
ENST00000373588.8:c.905G>T	ENSP00000362690.4:p.Trp302Leu
ENST00000620110.4:c.871-1887G>T	ENSP00000483309.1:n.871-1887G>T
NM_004959.4:c.905G>T	NP_004950.2:p.Trp302Leu
XM_005251871.2:c.905G>T	XP_005251928.1:p.Trp302Leu
XM_005251872.3:c.644G>T	XP_005251929.1:p.Trp215Leu
XM_011518455.1:c.905G>T	XP_011516757.1:p.Trp302Leu
XM_011518456.1:c.870+6975G>T	XP_011516758.1:n.870+6975G>T
NM_004959.5:c.905G>T MANE Select	NP_004950.2:p.Trp302Leu