Canonical Allele Identifier: CA1110163
Gene: LCE3E HGNC NCBI
LCE3C HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152565940C>T
GRCh37 chr1:g.152538416C>T
Revel Score:
ENST00000368789 (MANE Select) 0.099
gnomAD v2:
1:152538416 C / T
gnomAD v4:
chr1-152565940-C-T
Joint Max Group AF 0.00001298 (NFE)
Exomes Max Group AF 0.00001378 (NFE)
ClinVar RCV:
RCV004219437
ClinVar Variation:
2382756
dbSNP:
773419293
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152565940C>T , CM000663.2:g.152565940C>T GRCh38
NC_000001.10:g.152538416C>T , CM000663.1:g.152538416C>T GRCh37
NC_000001.9:g.150805040C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368789.2:c.269G>A (LCE3E) MANE Select ENSP00000357778.1:p.Gly90Asp
ENST00000368789.1:c.269G>A (LCE3E) ENSP00000357778.1:p.Gly90Asp
ENST00000617545.1:c.45-34851C>T (LCE3C) ENSP00000482477.1:n.45-34851C>T
NM_178435.3:c.269G>A (LCE3E) NP_848522.1:p.Gly90Asp
XM_011509484.1:c.269G>A (LCE3E) XP_011507786.1:p.Gly90Asp
NM_178435.4:c.269G>A (LCE3E) MANE Select NP_848522.1:p.Gly90Asp
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