Canonical Allele Identifier: CA343763
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 39291
ClinVar RCV Id: RCV000032571
dbSNP Id: rs199422281
gnomAD v4: 3-169764738-G-A
MyVariant Identifiers: chr3:g.169482526G>A (hg19) chr3:g.169764738G>A (hg38)
PubMed: PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764738G>A , CM000665.2:g.169764738G>A GRCh38
NC_000003.11:g.169482526G>A , CM000665.1:g.169482526G>A GRCh37
NC_000003.10:g.170965220G>A NCBI36
NG_016363.1:g.5323C>T , LRG_347:g.5323C>T

Transcript Alleles

HGVS Amino-acid change
NR_001566.1:n.323C>T , LRG_347t1:n.323C>T
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