Canonical Allele Identifier: CA803699457
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs1467435130
gnomAD v4: 5-1295067-A-G
MyVariant Identifiers: chr5:g.1295182A>G (hg19) chr5:g.1295067A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1295067A>G , CM000667.2:g.1295067A>G GRCh38
NC_000005.9:g.1295182A>G , CM000667.1:g.1295182A>G GRCh37
NC_000005.8:g.1348182A>G NCBI36
NG_009265.1:g.4981T>C , LRG_343:g.4981T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.-78T>C MANE Select ENSP00000309572.5:n.-78T>C
ENST00000522877.1:n.3T>C
NM_001193376.2:c.-78T>C NP_001180305.1:n.-78T>C
NM_198253.3:c.-78T>C MANE Select NP_937983.2:n.-78T>C
NR_149162.2:n.2T>C
NR_149163.2:n.2T>C
NM_001193376.3:c.-78T>C NP_001180305.1:n.-78T>C
NR_149162.3:n.2T>C
NR_149163.3:n.2T>C
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