Canonical Allele Identifier: CA393032576
Gene: NR2E3 HGNC NCBI

Linked Data

gnomAD v4: 15-71811817-G-C
MyVariant Identifiers: chr15:g.72104157G>C (hg19) chr15:g.71811817G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811817G>C , CM000677.2:g.71811817G>C GRCh38
NC_000015.9:g.72104157G>C , CM000677.1:g.72104157G>C GRCh37
NC_000015.8:g.69891211G>C NCBI36
NG_009113.2:g.6263G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.297G>C MANE Select ENSP00000482504.1:p.Gln99His
ENST00000617575.4:c.297G>C ENSP00000482504.1:p.Gln99His
ENST00000621098.1:c.297G>C ENSP00000479962.1:p.Gln99His
ENST00000621736.4:c.33G>C ENSP00000479254.1:p.Gln11His
NM_014249.3:c.297G>C NP_055064.1:p.Gln99His
NM_016346.3:c.297G>C NP_057430.1:p.Gln99His
XM_011521146.1:c.33G>C XP_011519448.1:p.Gln11His
NM_014249.4:c.297G>C MANE Select NP_055064.1:p.Gln99His
NM_016346.4:c.297G>C NP_057430.1:p.Gln99His
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