Canonical Allele Identifier: CA393032450

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811799-C-A
• MyVariant Identifiers: chr15:g.72104139C>A (hg19) ; chr15:g.71811799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811799C>A , CM000677.2:g.71811799C>A	GRCh38
NC_000015.9:g.72104139C>A , CM000677.1:g.72104139C>A	GRCh37
NC_000015.8:g.69891193C>A	NCBI36
NG_009113.2:g.6245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.279C>A MANE Select	ENSP00000482504.1:p.Asp93Glu
ENST00000617575.4:c.279C>A	ENSP00000482504.1:p.Asp93Glu
ENST00000621098.1:c.279C>A	ENSP00000479962.1:p.Asp93Glu
ENST00000621736.4:c.15C>A	ENSP00000479254.1:p.Asp5Glu
NM_014249.3:c.279C>A	NP_055064.1:p.Asp93Glu
NM_016346.3:c.279C>A	NP_057430.1:p.Asp93Glu
XM_011521146.1:c.15C>A	XP_011519448.1:p.Asp5Glu
NM_014249.4:c.279C>A MANE Select	NP_055064.1:p.Asp93Glu
NM_016346.4:c.279C>A	NP_057430.1:p.Asp93Glu