Canonical Allele Identifier: CA7640247
Community Standard Title: NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp)
Gene: NR2E3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811593C>T , CM000677.2:g.71811593C>T GRCh38
NC_000015.9:g.72103933C>T , CM000677.1:g.72103933C>T GRCh37
NC_000015.8:g.69890987C>T NCBI36
NG_009113.2:g.6039C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014249.4:c.229C>T MANE Select NP_055064.1:p.Arg77Trp
ENST00000617575.5:c.229C>T MANE Select ENSP00000482504.1:p.Arg77Trp
NM_014249.3:c.229C>T NP_055064.1:p.Arg77Trp
NM_016346.3:c.229C>T NP_057430.1:p.Arg77Trp
NM_016346.4:c.229C>T NP_057430.1:p.Arg77Trp
ENST00000617575.4:c.229C>T ENSP00000482504.1:p.Arg77Trp
ENST00000621098.1:c.229C>T ENSP00000479962.1:p.Arg77Trp
ENST00000621736.4:c.-36C>T ENSP00000479254.1:n.-36C>T
XM_011521146.1:c.-36C>T XP_011519448.1:n.-36C>T