Canonical Allele Identifier: CA35913365
Gene: NR5A2 HGNC NCBI

Linked Data

dbSNP Id: rs759847089

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038204C>T , CM000663.2:g.200038204C>T GRCh38
NC_000001.10:g.200007332C>T , CM000663.1:g.200007332C>T GRCh37
NC_000001.9:g.198273955C>T NCBI36
NG_050913.1:g.15603C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1454C>T MANE Select ENSP00000356331.3:n.65-1454C>T
ENST00000236914.7:c.65-5570C>T ENSP00000236914.3:n.65-5570C>T
ENST00000367362.7:c.65-1454C>T ENSP00000356331.3:n.65-1454C>T
ENST00000447034.1:c.30-497C>T
ENST00000474307.1:c.*419-5570C>T ENSP00000436776.1:n.*419-5570C>T
NM_003822.4:c.65-5570C>T NP_003813.1:n.65-5570C>T
NM_205860.2:c.65-1454C>T NP_995582.1:n.65-1454C>T
XM_011509380.1:c.-56-1454C>T XP_011507682.1:n.-56-1454C>T
XM_011509382.1:c.-14-5570C>T XP_011507684.1:n.-14-5570C>T
XM_011509381.3:c.-625C>T XP_011507683.1:n.-625C>T
NM_205860.3:c.65-1454C>T MANE Select NP_995582.1:n.65-1454C>T
NM_003822.5:c.65-5570C>T NP_003813.1:n.65-5570C>T