Canonical Allele Identifier: CA393032460
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811800A>T , CM000677.2:g.71811800A>T GRCh38
NC_000015.9:g.72104140A>T , CM000677.1:g.72104140A>T GRCh37
NC_000015.8:g.69891194A>T NCBI36
NG_009113.2:g.6246A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.280A>T MANE Select ENSP00000482504.1:p.Lys94Ter
ENST00000617575.4:c.280A>T ENSP00000482504.1:p.Lys94Ter
ENST00000621098.1:c.280A>T ENSP00000479962.1:p.Lys94Ter
ENST00000621736.4:c.16A>T ENSP00000479254.1:p.Lys6Ter
NM_014249.3:c.280A>T NP_055064.1:p.Lys94Ter
NM_016346.3:c.280A>T NP_057430.1:p.Lys94Ter
XM_011521146.1:c.16A>T XP_011519448.1:p.Lys6Ter
NM_014249.4:c.280A>T MANE Select NP_055064.1:p.Lys94Ter
NM_016346.4:c.280A>T NP_057430.1:p.Lys94Ter