Canonical Allele Identifier: CA729976821
Gene: NR5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1220750283

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038356G>A , CM000663.2:g.200038356G>A GRCh38
NC_000001.10:g.200007484G>A , CM000663.1:g.200007484G>A GRCh37
NC_000001.9:g.198274107G>A NCBI36
NG_050913.1:g.15755G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1302G>A MANE Select ENSP00000356331.3:n.65-1302G>A
ENST00000236914.7:c.65-5418G>A ENSP00000236914.3:n.65-5418G>A
ENST00000367362.7:c.65-1302G>A ENSP00000356331.3:n.65-1302G>A
ENST00000447034.1:c.30-345G>A
ENST00000474307.1:c.*419-5418G>A ENSP00000436776.1:n.*419-5418G>A
NM_003822.4:c.65-5418G>A NP_003813.1:n.65-5418G>A
NM_205860.2:c.65-1302G>A NP_995582.1:n.65-1302G>A
XM_011509380.1:c.-56-1302G>A XP_011507682.1:n.-56-1302G>A
XM_011509382.1:c.-14-5418G>A XP_011507684.1:n.-14-5418G>A
XM_011509381.3:c.-473G>A XP_011507683.1:n.-473G>A
NM_205860.3:c.65-1302G>A MANE Select NP_995582.1:n.65-1302G>A
NM_003822.5:c.65-5418G>A NP_003813.1:n.65-5418G>A