Canonical Allele Identifier: CA1878469101
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500498G= , CM000671.2:g.124500498G= GRCh38
NC_000009.11:g.127262777G= , CM000671.1:g.127262777G= GRCh37
NC_000009.10:g.126302598G= NCBI36
NG_008176.1:g.11923C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.462C= MANE Select ENSP00000362690.4:p.Ala154=
ENST00000373587.3:c.40-226C= ENSP00000362689.3:n.40-226C=
ENST00000373588.8:c.462C= ENSP00000362690.4:p.Ala154=
ENST00000455734.1:c.462C= ENSP00000393245.1:p.Ala154=
ENST00000620110.4:c.462C= ENSP00000483309.1:p.Ala154=
NM_004959.4:c.462C= NP_004950.2:p.Ala154=
XM_005251871.2:c.462C= XP_005251928.1:p.Ala154=
XM_005251872.3:c.201C= XP_005251929.1:p.Ala67=
XM_011518455.1:c.462C= XP_011516757.1:p.Ala154=
XM_011518456.1:c.462C= XP_011516758.1:p.Ala154=
NM_004959.5:c.462C= MANE Select NP_004950.2:p.Ala154=