Canonical Allele Identifier: CA7640311

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 317014
• ClinVar RCV Id: RCV000271119 ; RCV000368328 ; RCV001121809 ; RCV001449310
• dbSNP Id: rs533192044
• ExAC: 15:72104389 T / C
• gnomAD v2: 15-72104389-T-C
• gnomAD v3: 15-71812049-T-C
• gnomAD v4: 15-71812049-T-C
• MyVariant Identifiers: chr15:g.72104389T>C (hg19) ; chr15:g.71812049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71812049T>C , CM000677.2:g.71812049T>C	GRCh38
NC_000015.9:g.72104389T>C , CM000677.1:g.72104389T>C	GRCh37
NC_000015.8:g.69891443T>C	NCBI36
NG_009113.2:g.6495T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.444T>C MANE Select	ENSP00000482504.1:p.Ala148=
ENST00000617575.4:c.444T>C	ENSP00000482504.1:p.Ala148=
ENST00000621098.1:c.444T>C	ENSP00000479962.1:p.Ala148=
ENST00000621736.4:c.180T>C	ENSP00000479254.1:p.Ala60=
NM_014249.3:c.444T>C	NP_055064.1:p.Ala148=
NM_016346.3:c.444T>C	NP_057430.1:p.Ala148=
XM_011521146.1:c.180T>C	XP_011519448.1:p.Ala60=
NM_014249.4:c.444T>C MANE Select	NP_055064.1:p.Ala148=
NM_016346.4:c.444T>C	NP_057430.1:p.Ala148=