Canonical Allele Identifier: CA1878468818

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500408G= , CM000671.2:g.124500408G=	GRCh38
NC_000009.11:g.127262687G= , CM000671.1:g.127262687G=	GRCh37
NC_000009.10:g.126302508G=	NCBI36
NG_008176.1:g.12013C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.552C= MANE Select	ENSP00000362690.4:p.Leu184=
ENST00000373587.3:c.40-136C=	ENSP00000362689.3:n.40-136C=
ENST00000373588.8:c.552C=	ENSP00000362690.4:p.Leu184=
ENST00000620110.4:c.552C=	ENSP00000483309.1:p.Leu184=
NM_004959.4:c.552C=	NP_004950.2:p.Leu184=
XM_005251871.2:c.552C=	XP_005251928.1:p.Leu184=
XM_005251872.3:c.291C=	XP_005251929.1:p.Leu97=
XM_011518455.1:c.552C=	XP_011516757.1:p.Leu184=
XM_011518456.1:c.552C=	XP_011516758.1:p.Leu184=
NM_004959.5:c.552C= MANE Select	NP_004950.2:p.Leu184=