Canonical Allele Identifier: CA1878461874
Gene: NR5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124492978T= , CM000671.2:g.124492978T= GRCh38
NC_000009.11:g.127255257T= , CM000671.1:g.127255257T= GRCh37
NC_000009.10:g.126295078T= NCBI36
NG_008176.1:g.19443A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.990+52A= MANE Select ENSP00000362690.4:n.990+52A=
ENST00000373587.3:c.342+52A= ENSP00000362689.3:n.342+52A=
ENST00000373588.8:c.990+52A= ENSP00000362690.4:n.990+52A=
ENST00000620110.4:c.871-1750A= ENSP00000483309.1:n.871-1750A=
NM_004959.4:c.990+52A= NP_004950.2:n.990+52A=
XM_005251871.2:c.990+52A= XP_005251928.1:n.990+52A=
XM_005251872.3:c.729+52A= XP_005251929.1:n.729+52A=
XM_011518455.1:c.990+52A= XP_011516757.1:n.990+52A=
XM_011518456.1:c.870+7112A= XP_011516758.1:n.870+7112A=
NM_004959.5:c.990+52A= MANE Select NP_004950.2:n.990+52A=