Canonical Allele Identifier: CA1219157552
Gene: NR5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1661867429

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038152C>A , CM000663.2:g.200038152C>A GRCh38
NC_000001.10:g.200007280C>A , CM000663.1:g.200007280C>A GRCh37
NC_000001.9:g.198273903C>A NCBI36
NG_050913.1:g.15551C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1506C>A MANE Select ENSP00000356331.3:n.65-1506C>A
ENST00000236914.7:c.65-5622C>A ENSP00000236914.3:n.65-5622C>A
ENST00000367362.7:c.65-1506C>A ENSP00000356331.3:n.65-1506C>A
ENST00000447034.1:c.30-549C>A
ENST00000474307.1:c.*419-5622C>A ENSP00000436776.1:n.*419-5622C>A
NM_003822.4:c.65-5622C>A NP_003813.1:n.65-5622C>A
NM_205860.2:c.65-1506C>A NP_995582.1:n.65-1506C>A
XM_011509380.1:c.-56-1506C>A XP_011507682.1:n.-56-1506C>A
XM_011509382.1:c.-14-5622C>A XP_011507684.1:n.-14-5622C>A
XM_011509381.3:c.-677C>A XP_011507683.1:n.-677C>A
NM_205860.3:c.65-1506C>A MANE Select NP_995582.1:n.65-1506C>A
NM_003822.5:c.65-5622C>A NP_003813.1:n.65-5622C>A