Canonical Allele Identifier: CA393032234
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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