Canonical Allele Identifier: CA359056880

Gene: TERT

Linked Data

• ClinVar Variation Id: 657435
• ClinVar RCV Id: RCV002539942 ; RCV002390647
• dbSNP Id: rs1579597808
• gnomAD v4: 5-1294127-C-G
• MyVariant Identifiers: chr5:g.1294242C>G (hg19) ; chr5:g.1294127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294127C>G , CM000667.2:g.1294127C>G	GRCh38
NC_000005.9:g.1294242C>G , CM000667.1:g.1294242C>G	GRCh37
NC_000005.8:g.1347242C>G	NCBI36
NG_009265.1:g.5921G>C , LRG_343:g.5921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.759G>C MANE Select	ENSP00000309572.5:p.Gln253His
ENST00000656021.1:c.759G>C	ENSP00000499759.1:p.Gln253His
ENST00000310581.9:c.759G>C	ENSP00000309572.5:p.Gln253His
ENST00000334602.10:c.759G>C	ENSP00000334346.6:p.Gln253His
ENST00000460137.6:c.759G>C	ENSP00000425003.1:p.Gln253His
ENST00000508104.2:c.759G>C	ENSP00000426042.2:p.Gln253His
NM_001193376.1:c.759G>C	NP_001180305.1:p.Gln253His
NM_198253.2:c.759G>C , LRG_343t1:c.759G>C	NP_937983.2:p.Gln253His
NR_149162.1:n.817G>C
NR_149163.1:n.817G>C
NM_001193376.2:c.759G>C	NP_001180305.1:p.Gln253His
NM_198253.3:c.759G>C MANE Select	NP_937983.2:p.Gln253His
NR_149162.2:n.838G>C
NR_149163.2:n.838G>C
NM_001193376.3:c.759G>C	NP_001180305.1:p.Gln253His
NR_149162.3:n.838G>C
NR_149163.3:n.838G>C