Canonical Allele Identifier: CA491103547

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 1139019
• ClinVar RCV Id: RCV001475584
• dbSNP Id: rs2054184336
• gnomAD v4: 15-71811820-C-T
• MyVariant Identifiers: chr15:g.72104160C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811820C>T , CM000677.2:g.71811820C>T	GRCh38
NC_000015.9:g.72104160C>T , CM000677.1:g.72104160C>T	GRCh37
NC_000015.8:g.69891214C>T	NCBI36
NG_009113.2:g.6266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.300C>T MANE Select	ENSP00000482504.1:p.Cys100=
ENST00000617575.4:c.300C>T	ENSP00000482504.1:p.Cys100=
ENST00000621098.1:c.300C>T	ENSP00000479962.1:p.Cys100=
ENST00000621736.4:c.36C>T	ENSP00000479254.1:p.Cys12=
NM_014249.3:c.300C>T	NP_055064.1:p.Cys100=
NM_016346.3:c.300C>T	NP_057430.1:p.Cys100=
XM_011521146.1:c.36C>T	XP_011519448.1:p.Cys12=
NM_014249.4:c.300C>T MANE Select	NP_055064.1:p.Cys100=
NM_016346.4:c.300C>T	NP_057430.1:p.Cys100=