Canonical Allele Identifier: CA374882331

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127255368T>G (hg19) ; chr9:g.124493089T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493089T>G , CM000671.2:g.124493089T>G	GRCh38
NC_000009.11:g.127255368T>G , CM000671.1:g.127255368T>G	GRCh37
NC_000009.10:g.126295189T>G	NCBI36
NG_008176.1:g.19332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.931A>C MANE Select	ENSP00000362690.4:p.Ile311Leu
ENST00000373587.3:c.283A>C	ENSP00000362689.3:p.Ile95Leu
ENST00000373588.8:c.931A>C	ENSP00000362690.4:p.Ile311Leu
ENST00000620110.4:c.871-1861A>C	ENSP00000483309.1:n.871-1861A>C
NM_004959.4:c.931A>C	NP_004950.2:p.Ile311Leu
XM_005251871.2:c.931A>C	XP_005251928.1:p.Ile311Leu
XM_005251872.3:c.670A>C	XP_005251929.1:p.Ile224Leu
XM_011518455.1:c.931A>C	XP_011516757.1:p.Ile311Leu
XM_011518456.1:c.870+7001A>C	XP_011516758.1:n.870+7001A>C
NM_004959.5:c.931A>C MANE Select	NP_004950.2:p.Ile311Leu