Canonical Allele Identifier: CA491103537
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811805-C-A
MyVariant Identifiers: chr15:g.72104145C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811805C>A , CM000677.2:g.71811805C>A GRCh38
NC_000015.9:g.72104145C>A , CM000677.1:g.72104145C>A GRCh37
NC_000015.8:g.69891199C>A NCBI36
NG_009113.2:g.6251C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.285C>A MANE Select ENSP00000482504.1:p.Ala95=
ENST00000617575.4:c.285C>A ENSP00000482504.1:p.Ala95=
ENST00000621098.1:c.285C>A ENSP00000479962.1:p.Ala95=
ENST00000621736.4:c.21C>A ENSP00000479254.1:p.Ala7=
NM_014249.3:c.285C>A NP_055064.1:p.Ala95=
NM_016346.3:c.285C>A NP_057430.1:p.Ala95=
XM_011521146.1:c.21C>A XP_011519448.1:p.Ala7=
NM_014249.4:c.285C>A MANE Select NP_055064.1:p.Ala95=
NM_016346.4:c.285C>A NP_057430.1:p.Ala95=
Search 100 bp 5'
Search 100 bp 3'