Canonical Allele Identifier: CA729976759
Gene: NR5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1478579767

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200038289_200038298dup , CM000663.2:g.200038289_200038298dup GRCh38
NC_000001.10:g.200007417_200007426dup , CM000663.1:g.200007417_200007426dup GRCh37
NC_000001.9:g.198274040_198274049dup NCBI36
NG_050913.1:g.15688_15697dup

Transcript Alleles

HGVS Amino-acid change
ENST00000367362.8:c.65-1369_65-1360dup MANE Select ENSP00000356331.3:n.65-1369_65-1360dup
ENST00000236914.7:c.65-5485_65-5476dup ENSP00000236914.3:n.65-5485_65-5476dup
ENST00000367362.7:c.65-1369_65-1360dup ENSP00000356331.3:n.65-1369_65-1360dup
ENST00000447034.1:c.30-412_30-403dup
ENST00000474307.1:c.*419-5485_*419-5476dup ENSP00000436776.1:n.*419-5485_*419-5476du...
NM_003822.4:c.65-5485_65-5476dup NP_003813.1:n.65-5485_65-5476dup
NM_205860.2:c.65-1369_65-1360dup NP_995582.1:n.65-1369_65-1360dup
XM_011509380.1:c.-56-1369_-56-1360dup XP_011507682.1:n.-56-1369_-56-1360dup
XM_011509382.1:c.-14-5485_-14-5476dup XP_011507684.1:n.-14-5485_-14-5476dup
XM_011509381.3:c.-540_-531dup XP_011507683.1:n.-540_-531dup
NM_205860.3:c.65-1369_65-1360dup MANE Select NP_995582.1:n.65-1369_65-1360dup
NM_003822.5:c.65-5485_65-5476dup NP_003813.1:n.65-5485_65-5476dup