Canonical Allele Identifier: CA7640279
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 999611
ClinVar RCV Id: RCV001295630 RCV001835392
dbSNP Id: rs534220505
ExAC: 15:72104164 G / T
gnomAD v2: 15-72104164-G-T
gnomAD v3: 15-71811824-G-T
gnomAD v4: 15-71811824-G-T
MyVariant Identifiers: chr15:g.72104164G>T (hg19) chr15:g.71811824G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811824G>T , CM000677.2:g.71811824G>T GRCh38
NC_000015.9:g.72104164G>T , CM000677.1:g.72104164G>T GRCh37
NC_000015.8:g.69891218G>T NCBI36
NG_009113.2:g.6270G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.304G>T MANE Select ENSP00000482504.1:p.Ala102Ser
ENST00000617575.4:c.304G>T ENSP00000482504.1:p.Ala102Ser
ENST00000621098.1:c.304G>T ENSP00000479962.1:p.Ala102Ser
ENST00000621736.4:c.40G>T ENSP00000479254.1:p.Ala14Ser
NM_014249.3:c.304G>T NP_055064.1:p.Ala102Ser
NM_016346.3:c.304G>T NP_057430.1:p.Ala102Ser
XM_011521146.1:c.40G>T XP_011519448.1:p.Ala14Ser
NM_014249.4:c.304G>T MANE Select NP_055064.1:p.Ala102Ser
NM_016346.4:c.304G>T NP_057430.1:p.Ala102Ser
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