Canonical Allele Identifier: CA528296367
Gene: NR5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1313551295

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038369A>C , CM000663.2:g.200038369A>C GRCh38
NC_000001.10:g.200007497A>C , CM000663.1:g.200007497A>C GRCh37
NC_000001.9:g.198274120A>C NCBI36
NG_050913.1:g.15768A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1289A>C MANE Select ENSP00000356331.3:n.65-1289A>C
ENST00000236914.7:c.65-5405A>C ENSP00000236914.3:n.65-5405A>C
ENST00000367362.7:c.65-1289A>C ENSP00000356331.3:n.65-1289A>C
ENST00000447034.1:c.30-332A>C
ENST00000474307.1:c.*419-5405A>C ENSP00000436776.1:n.*419-5405A>C
NM_003822.4:c.65-5405A>C NP_003813.1:n.65-5405A>C
NM_205860.2:c.65-1289A>C NP_995582.1:n.65-1289A>C
XM_011509380.1:c.-56-1289A>C XP_011507682.1:n.-56-1289A>C
XM_011509382.1:c.-14-5405A>C XP_011507684.1:n.-14-5405A>C
XM_011509381.3:c.-460A>C XP_011507683.1:n.-460A>C
NM_205860.3:c.65-1289A>C MANE Select NP_995582.1:n.65-1289A>C
NM_003822.5:c.65-5405A>C NP_003813.1:n.65-5405A>C