Canonical Allele Identifier: CA658825119

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811924C>T , CM000677.2:g.71811924C>T	GRCh38
NC_000015.9:g.72104264C>T , CM000677.1:g.72104264C>T	GRCh37
NC_000015.8:g.69891318C>T	NCBI36
NG_009113.2:g.6370C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014249.4:c.350-31C>T MANE Select	NP_055064.1:n.350-31C>T
ENST00000617575.5:c.350-31C>T MANE Select	ENSP00000482504.1:n.350-31C>T
NM_014249.3:c.350-31C>T	NP_055064.1:n.350-31C>T
NM_016346.3:c.350-31C>T	NP_057430.1:n.350-31C>T
NM_016346.4:c.350-31C>T	NP_057430.1:n.350-31C>T
ENST00000617575.4:c.350-31C>T	ENSP00000482504.1:n.350-31C>T
ENST00000621098.1:c.350-31C>T	ENSP00000479962.1:n.350-31C>T
ENST00000621736.4:c.86-31C>T	ENSP00000479254.1:n.86-31C>T
XM_011521146.1:c.86-31C>T	XP_011519448.1:n.86-31C>T