Canonical Allele Identifier: CA1878455201

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124482934A= , CM000671.2:g.124482934A=	GRCh38
NC_000009.11:g.127245213A= , CM000671.1:g.127245213A=	GRCh37
NC_000009.10:g.126285034A=	NCBI36
NG_008176.1:g.29487T=

Transcript Alleles

HGVS	Amino-acid Change
NM_004959.5:c.1210T= MANE Select	NP_004950.2:p.Tyr404=
ENST00000373588.9:c.1210T= MANE Select	ENSP00000362690.4:p.Tyr404=
NM_004959.4:c.1210T=	NP_004950.2:p.Tyr404=
ENST00000373587.3:c.562T=	ENSP00000362689.3:p.Tyr188=
ENST00000373588.8:c.1210T=	ENSP00000362690.4:p.Tyr404=
ENST00000620110.4:c.1090T=	ENSP00000483309.1:p.Tyr364=
XM_005251871.2:c.1210T=	XP_005251928.1:p.Tyr404=
XM_005251872.3:c.949T=	XP_005251929.1:p.Tyr317=
XM_011518455.1:c.1210T=	XP_011516757.1:p.Tyr404=
XM_011518456.1:c.*66T=	XP_011516758.1:n.*66T=