Canonical Allele Identifier: CA2186513748
Gene: NR2E3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811820C= , CM000677.2:g.71811820C= GRCh38
NC_000015.9:g.72104160C= , CM000677.1:g.72104160C= GRCh37
NC_000015.8:g.69891214C= NCBI36
NG_009113.2:g.6266C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.300C= MANE Select ENSP00000482504.1:p.Cys100=
ENST00000617575.4:c.300C= ENSP00000482504.1:p.Cys100=
ENST00000621098.1:c.300C= ENSP00000479962.1:p.Cys100=
ENST00000621736.4:c.36C= ENSP00000479254.1:p.Cys12=
NM_014249.3:c.300C= NP_055064.1:p.Cys100=
NM_016346.3:c.300C= NP_057430.1:p.Cys100=
XM_011521146.1:c.36C= XP_011519448.1:p.Cys12=
NM_014249.4:c.300C= MANE Select NP_055064.1:p.Cys100=
NM_016346.4:c.300C= NP_057430.1:p.Cys100=