Canonical Allele Identifier: CA393032232
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067997
ClinVar RCV Id: RCV001379414
dbSNP Id: rs2140288875
MyVariant Identifiers: chr15:g.72103950G>C (hg19) chr15:g.71811610G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811610G>C , CM000677.2:g.71811610G>C GRCh38
NC_000015.9:g.72103950G>C , CM000677.1:g.72103950G>C GRCh37
NC_000015.8:g.69891004G>C NCBI36
NG_009113.2:g.6056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.245+1G>C MANE Select ENSP00000482504.1:n.245+1G>C
ENST00000617575.4:c.245+1G>C ENSP00000482504.1:n.245+1G>C
ENST00000621098.1:c.245+1G>C ENSP00000479962.1:n.245+1G>C
ENST00000621736.4:c.-20+1G>C ENSP00000479254.1:n.-20+1G>C
NM_014249.3:c.245+1G>C NP_055064.1:n.245+1G>C
NM_016346.3:c.245+1G>C NP_057430.1:n.245+1G>C
XM_011521146.1:c.-20+1G>C XP_011519448.1:n.-20+1G>C
NM_014249.4:c.245+1G>C MANE Select NP_055064.1:n.245+1G>C
NM_016346.4:c.245+1G>C NP_057430.1:n.245+1G>C
Search 100 bp 5'
Search 100 bp 3'