Canonical Allele Identifier: CA467121328

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127255405C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493126C>G , CM000671.2:g.124493126C>G	GRCh38
NC_000009.11:g.127255405C>G , CM000671.1:g.127255405C>G	GRCh37
NC_000009.10:g.126295226C>G	NCBI36
NG_008176.1:g.19295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.894G>C MANE Select	ENSP00000362690.4:p.Leu298=
ENST00000373587.3:c.246G>C	ENSP00000362689.3:p.Leu82=
ENST00000373588.8:c.894G>C	ENSP00000362690.4:p.Leu298=
ENST00000620110.4:c.871-1898G>C	ENSP00000483309.1:n.871-1898G>C
NM_004959.4:c.894G>C	NP_004950.2:p.Leu298=
XM_005251871.2:c.894G>C	XP_005251928.1:p.Leu298=
XM_005251872.3:c.633G>C	XP_005251929.1:p.Leu211=
XM_011518455.1:c.894G>C	XP_011516757.1:p.Leu298=
XM_011518456.1:c.870+6964G>C	XP_011516758.1:n.870+6964G>C
NM_004959.5:c.894G>C MANE Select	NP_004950.2:p.Leu298=