Canonical Allele Identifier: CA7640407

Gene: NR2E3

Linked Data

• dbSNP Id: rs769154628
• ExAC: 15:72105819 C / A
• gnomAD v2: 15-72105819-C-A
• gnomAD v4: 15-71813479-C-A
• MyVariant Identifiers: chr15:g.72105819C>A (hg19) ; chr15:g.71813479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71813479C>A , CM000677.2:g.71813479C>A	GRCh38
NC_000015.9:g.72105819C>A , CM000677.1:g.72105819C>A	GRCh37
NC_000015.8:g.69892873C>A	NCBI36
NG_009113.2:g.7925C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617575.5:c.838C>A MANE Select	ENSP00000482504.1:p.Pro280Thr
ENST00000617575.4:c.838C>A	ENSP00000482504.1:p.Pro280Thr
ENST00000621098.1:c.838C>A	ENSP00000479962.1:p.Pro280Thr
ENST00000621736.4:c.574C>A	ENSP00000479254.1:p.Pro192Thr
NM_014249.3:c.838C>A	NP_055064.1:p.Pro280Thr
NM_016346.3:c.838C>A	NP_057430.1:p.Pro280Thr
XM_011521146.1:c.574C>A	XP_011519448.1:p.Pro192Thr
NM_014249.4:c.838C>A MANE Select	NP_055064.1:p.Pro280Thr
NM_016346.4:c.838C>A	NP_057430.1:p.Pro280Thr