Canonical Allele Identifier: CA1878472407
Gene: NR5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1832488698
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124502814C>T , CM000671.2:g.124502814C>T GRCh38
NC_000009.11:g.127265093C>T , CM000671.1:g.127265093C>T GRCh37
NC_000009.10:g.126304914C>T NCBI36
NG_008176.1:g.9607G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.244+265G>A MANE Select ENSP00000362690.4:n.244+265G>A
ENST00000373588.8:c.244+265G>A ENSP00000362690.4:n.244+265G>A
ENST00000455734.1:c.244+265G>A ENSP00000393245.1:n.244+265G>A
ENST00000620110.4:c.244+265G>A ENSP00000483309.1:n.244+265G>A
NM_004959.4:c.244+265G>A NP_004950.2:n.244+265G>A
XM_005251871.2:c.244+265G>A XP_005251928.1:n.244+265G>A
XM_005251872.3:c.-18+480G>A XP_005251929.1:n.-18+480G>A
XM_011518455.1:c.244+265G>A XP_011516757.1:n.244+265G>A
XM_011518456.1:c.244+265G>A XP_011516758.1:n.244+265G>A
NM_004959.5:c.244+265G>A MANE Select NP_004950.2:n.244+265G>A
Search 100 bp 5'
Search 100 bp 3'