Canonical Allele Identifier: CA374889343
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500958C>T , CM000671.2:g.124500958C>T GRCh38
NC_000009.11:g.127263237C>T , CM000671.1:g.127263237C>T GRCh37
NC_000009.10:g.126303058C>T NCBI36
NG_008176.1:g.11463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.245-243G>A MANE Select ENSP00000362690.4:n.245-243G>A
ENST00000373587.3:c.29G>A ENSP00000362689.3:p.Arg10Lys
ENST00000373588.8:c.245-243G>A ENSP00000362690.4:n.245-243G>A
ENST00000455734.1:c.245-243G>A ENSP00000393245.1:n.245-243G>A
ENST00000620110.4:c.245-243G>A ENSP00000483309.1:n.245-243G>A
NM_004959.4:c.245-243G>A NP_004950.2:n.245-243G>A
XM_005251871.2:c.245-243G>A XP_005251928.1:n.245-243G>A
XM_005251872.3:c.-17-243G>A XP_005251929.1:n.-17-243G>A
XM_011518455.1:c.245-243G>A XP_011516757.1:n.245-243G>A
XM_011518456.1:c.245-243G>A XP_011516758.1:n.245-243G>A
NM_004959.5:c.245-243G>A MANE Select NP_004950.2:n.245-243G>A