Canonical Allele Identifier: CA1878468051

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500125A= , CM000671.2:g.124500125A=	GRCh38
NC_000009.11:g.127262404A= , CM000671.1:g.127262404A=	GRCh37
NC_000009.10:g.126302225A=	NCBI36
NG_008176.1:g.12296T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.835T= MANE Select	ENSP00000362690.4:p.Trp279=
ENST00000373587.3:c.187T=	ENSP00000362689.3:p.Trp63=
ENST00000373588.8:c.835T=	ENSP00000362690.4:p.Trp279=
ENST00000620110.4:c.835T=	ENSP00000483309.1:p.Trp279=
NM_004959.4:c.835T=	NP_004950.2:p.Trp279=
XM_005251871.2:c.835T=	XP_005251928.1:p.Trp279=
XM_005251872.3:c.574T=	XP_005251929.1:p.Trp192=
XM_011518455.1:c.835T=	XP_011516757.1:p.Trp279=
XM_011518456.1:c.835T=	XP_011516758.1:p.Trp279=
NM_004959.5:c.835T= MANE Select	NP_004950.2:p.Trp279=