Canonical Allele Identifier: CA7640308

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 317013
• ClinVar RCV Id: RCV000297664 ; RCV000369444 ; RCV001069768 ; RCV001119821 ; RCV003888733
• dbSNP Id: rs767828150
• ExAC: 15:72104355 C / T
• gnomAD v2: 15-72104355-C-T
• gnomAD v3: 15-71812015-C-T
• gnomAD v4: 15-71812015-C-T
• MyVariant Identifiers: chr15:g.72104355C>T (hg19) ; chr15:g.71812015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71812015C>T , CM000677.2:g.71812015C>T	GRCh38
NC_000015.9:g.72104355C>T , CM000677.1:g.72104355C>T	GRCh37
NC_000015.8:g.69891409C>T	NCBI36
NG_009113.2:g.6461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.410C>T MANE Select	ENSP00000482504.1:p.Ser137Phe
ENST00000617575.4:c.410C>T	ENSP00000482504.1:p.Ser137Phe
ENST00000621098.1:c.410C>T	ENSP00000479962.1:p.Ser137Phe
ENST00000621736.4:c.146C>T	ENSP00000479254.1:p.Ser49Phe
NM_014249.3:c.410C>T	NP_055064.1:p.Ser137Phe
NM_016346.3:c.410C>T	NP_057430.1:p.Ser137Phe
XM_011521146.1:c.146C>T	XP_011519448.1:p.Ser49Phe
NM_014249.4:c.410C>T MANE Select	NP_055064.1:p.Ser137Phe
NM_016346.4:c.410C>T	NP_057430.1:p.Ser137Phe