Canonical Allele Identifier: CA393032133

Gene: NR2E3

Linked Data

• dbSNP Id: rs2140288813
• gnomAD v4: 15-71811577-C-G
• MyVariant Identifiers: chr15:g.72103917C>G (hg19) ; chr15:g.71811577C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811577C>G , CM000677.2:g.71811577C>G	GRCh38
NC_000015.9:g.72103917C>G , CM000677.1:g.72103917C>G	GRCh37
NC_000015.8:g.69890971C>G	NCBI36
NG_009113.2:g.6023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.213C>G MANE Select	ENSP00000482504.1:p.Phe71Leu
ENST00000617575.4:c.213C>G	ENSP00000482504.1:p.Phe71Leu
ENST00000621098.1:c.213C>G	ENSP00000479962.1:p.Phe71Leu
ENST00000621736.4:c.-52C>G	ENSP00000479254.1:n.-52C>G
NM_014249.3:c.213C>G	NP_055064.1:p.Phe71Leu
NM_016346.3:c.213C>G	NP_057430.1:p.Phe71Leu
XM_011521146.1:c.-52C>G	XP_011519448.1:n.-52C>G
NM_014249.4:c.213C>G MANE Select	NP_055064.1:p.Phe71Leu
NM_016346.4:c.213C>G	NP_057430.1:p.Phe71Leu