Canonical Allele Identifier: CA1878472916

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124503157T= , CM000671.2:g.124503157T=	GRCh38
NC_000009.11:g.127265436T= , CM000671.1:g.127265436T=	GRCh37
NC_000009.10:g.126305257T=	NCBI36
NG_008176.1:g.9264A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.166A= MANE Select	ENSP00000362690.4:p.Lys56=
ENST00000373588.8:c.166A=	ENSP00000362690.4:p.Lys56=
ENST00000455734.1:c.166A=	ENSP00000393245.1:p.Lys56=
ENST00000620110.4:c.166A=	ENSP00000483309.1:p.Lys56=
NM_004959.4:c.166A=	NP_004950.2:p.Lys56=
XM_005251871.2:c.166A=	XP_005251928.1:p.Lys56=
XM_005251872.3:c.-18+137A=	XP_005251929.1:n.-18+137A=
XM_011518455.1:c.166A=	XP_011516757.1:p.Lys56=
XM_011518456.1:c.166A=	XP_011516758.1:p.Lys56=
NM_004959.5:c.166A= MANE Select	NP_004950.2:p.Lys56=