Canonical Allele Identifier: CA467208173

Gene: NR5A1

Linked Data

• MyVariant Identifiers: chr9:g.127262510G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500231G>A , CM000671.2:g.124500231G>A	GRCh38
NC_000009.11:g.127262510G>A , CM000671.1:g.127262510G>A	GRCh37
NC_000009.10:g.126302331G>A	NCBI36
NG_008176.1:g.12190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.729C>T MANE Select	ENSP00000362690.4:p.Arg243=
ENST00000373587.3:c.81C>T	ENSP00000362689.3:p.Arg27=
ENST00000373588.8:c.729C>T	ENSP00000362690.4:p.Arg243=
ENST00000620110.4:c.729C>T	ENSP00000483309.1:p.Arg243=
NM_004959.4:c.729C>T	NP_004950.2:p.Arg243=
XM_005251871.2:c.729C>T	XP_005251928.1:p.Arg243=
XM_005251872.3:c.468C>T	XP_005251929.1:p.Arg156=
XM_011518455.1:c.729C>T	XP_011516757.1:p.Arg243=
XM_011518456.1:c.729C>T	XP_011516758.1:p.Arg243=
NM_004959.5:c.729C>T MANE Select	NP_004950.2:p.Arg243=