Canonical Allele Identifier: CA359058763

Gene: TERT

Linked Data

• dbSNP Id: rs943289163
• gnomAD v3: 5-1294776-G-T
• gnomAD v4: 5-1294776-G-T
• MyVariant Identifiers: chr5:g.1294891G>T (hg19) ; chr5:g.1294776G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294776G>T , CM000667.2:g.1294776G>T	GRCh38
NC_000005.9:g.1294891G>T , CM000667.1:g.1294891G>T	GRCh37
NC_000005.8:g.1347891G>T	NCBI36
NG_009265.1:g.5272C>A , LRG_343:g.5272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.214C>A MANE Select	ENSP00000309572.5:p.Arg72Ser
ENST00000656021.1:c.214C>A	ENSP00000499759.1:p.Arg72Ser
ENST00000310581.9:c.214C>A	ENSP00000309572.5:p.Arg72Ser
ENST00000334602.10:c.214C>A	ENSP00000334346.6:p.Arg72Ser
ENST00000460137.6:c.214C>A	ENSP00000425003.1:p.Arg72Ser
ENST00000508104.2:c.214C>A	ENSP00000426042.2:p.Arg72Ser
ENST00000522877.1:n.294C>A
NM_001193376.1:c.214C>A	NP_001180305.1:p.Arg72Ser
NM_198253.2:c.214C>A , LRG_343t1:c.214C>A	NP_937983.2:p.Arg72Ser
NR_149162.1:n.272C>A
NR_149163.1:n.272C>A
NM_001193376.2:c.214C>A	NP_001180305.1:p.Arg72Ser
NM_198253.3:c.214C>A MANE Select	NP_937983.2:p.Arg72Ser
NR_149162.2:n.293C>A
NR_149163.2:n.293C>A
NM_001193376.3:c.214C>A	NP_001180305.1:p.Arg72Ser
NR_149162.3:n.293C>A
NR_149163.3:n.293C>A