Canonical Allele Identifier: CA1878468282

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500226A= , CM000671.2:g.124500226A=	GRCh38
NC_000009.11:g.127262505A= , CM000671.1:g.127262505A=	GRCh37
NC_000009.10:g.126302326A=	NCBI36
NG_008176.1:g.12195T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.734T= MANE Select	ENSP00000362690.4:p.Leu245=
ENST00000373587.3:c.86T=	ENSP00000362689.3:p.Leu29=
ENST00000373588.8:c.734T=	ENSP00000362690.4:p.Leu245=
ENST00000620110.4:c.734T=	ENSP00000483309.1:p.Leu245=
NM_004959.4:c.734T=	NP_004950.2:p.Leu245=
XM_005251871.2:c.734T=	XP_005251928.1:p.Leu245=
XM_005251872.3:c.473T=	XP_005251929.1:p.Leu158=
XM_011518455.1:c.734T=	XP_011516757.1:p.Leu245=
XM_011518456.1:c.734T=	XP_011516758.1:p.Leu245=
NM_004959.5:c.734T= MANE Select	NP_004950.2:p.Leu245=