Canonical Allele Identifier: CA393032574
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 963876
ClinVar RCV Id: RCV001237975
dbSNP Id: rs1392027026
gnomAD v4: 15-71811816-A-T
MyVariant Identifiers: chr15:g.72104156A>T (hg19) chr15:g.71811816A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811816A>T , CM000677.2:g.71811816A>T GRCh38
NC_000015.9:g.72104156A>T , CM000677.1:g.72104156A>T GRCh37
NC_000015.8:g.69891210A>T NCBI36
NG_009113.2:g.6262A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.296A>T MANE Select ENSP00000482504.1:p.Gln99Leu
ENST00000617575.4:c.296A>T ENSP00000482504.1:p.Gln99Leu
ENST00000621098.1:c.296A>T ENSP00000479962.1:p.Gln99Leu
ENST00000621736.4:c.32A>T ENSP00000479254.1:p.Gln11Leu
NM_014249.3:c.296A>T NP_055064.1:p.Gln99Leu
NM_016346.3:c.296A>T NP_057430.1:p.Gln99Leu
XM_011521146.1:c.32A>T XP_011519448.1:p.Gln11Leu
NM_014249.4:c.296A>T MANE Select NP_055064.1:p.Gln99Leu
NM_016346.4:c.296A>T NP_057430.1:p.Gln99Leu
Search 100 bp 5'
Search 100 bp 3'