Canonical Allele Identifier: CA1878469517

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500595G= , CM000671.2:g.124500595G=	GRCh38
NC_000009.11:g.127262874G= , CM000671.1:g.127262874G=	GRCh37
NC_000009.10:g.126302695G=	NCBI36
NG_008176.1:g.11826C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.365C= MANE Select	ENSP00000362690.4:p.Thr122=
ENST00000373587.3:c.40-323C=	ENSP00000362689.3:n.40-323C=
ENST00000373588.8:c.365C=	ENSP00000362690.4:p.Thr122=
ENST00000455734.1:c.365C=	ENSP00000393245.1:p.Thr122=
ENST00000620110.4:c.365C=	ENSP00000483309.1:p.Thr122=
NM_004959.4:c.365C=	NP_004950.2:p.Thr122=
XM_005251871.2:c.365C=	XP_005251928.1:p.Thr122=
XM_005251872.3:c.104C=	XP_005251929.1:p.Thr35=
XM_011518455.1:c.365C=	XP_011516757.1:p.Thr122=
XM_011518456.1:c.365C=	XP_011516758.1:p.Thr122=
NM_004959.5:c.365C= MANE Select	NP_004950.2:p.Thr122=