Canonical Allele Identifier: CA7640311

Gene: NR2E3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71812049T>C , CM000677.2:g.71812049T>C	GRCh38
NC_000015.9:g.72104389T>C , CM000677.1:g.72104389T>C	GRCh37
NC_000015.8:g.69891443T>C	NCBI36
NG_009113.2:g.6495T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014249.4:c.444T>C MANE Select	NP_055064.1:p.Ala148=
ENST00000617575.5:c.444T>C MANE Select	ENSP00000482504.1:p.Ala148=
NM_014249.3:c.444T>C	NP_055064.1:p.Ala148=
NM_016346.3:c.444T>C	NP_057430.1:p.Ala148=
NM_016346.4:c.444T>C	NP_057430.1:p.Ala148=
ENST00000617575.4:c.444T>C	ENSP00000482504.1:p.Ala148=
ENST00000621098.1:c.444T>C	ENSP00000479962.1:p.Ala148=
ENST00000621736.4:c.180T>C	ENSP00000479254.1:p.Ala60=
XM_011521146.1:c.180T>C	XP_011519448.1:p.Ala60=