Canonical Allele Identifier: CA3184933

Gene: TERT

Linked Data

• ClinVar Variation Id: 350803
• ClinVar RCV Id: RCV000312452 ; RCV000403911 ; RCV000355603 ; RCV002520303 ; RCV002365417
• dbSNP Id: rs35837567
• ExAC: 5:1294338 C / A
• gnomAD v2: 5-1294338-C-A
• gnomAD v3: 5-1294223-C-A
• gnomAD v4: 5-1294223-C-A
• MyVariant Identifiers: chr5:g.1294338C>A (hg19) ; chr5:g.1294223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294223C>A , CM000667.2:g.1294223C>A	GRCh38
NC_000005.9:g.1294338C>A , CM000667.1:g.1294338C>A	GRCh37
NC_000005.8:g.1347338C>A	NCBI36
NG_009265.1:g.5825G>T , LRG_343:g.5825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.663G>T MANE Select	ENSP00000309572.5:p.Ala221=
ENST00000656021.1:c.663G>T	ENSP00000499759.1:p.Ala221=
ENST00000310581.9:c.663G>T	ENSP00000309572.5:p.Ala221=
ENST00000334602.10:c.663G>T	ENSP00000334346.6:p.Ala221=
ENST00000460137.6:c.663G>T	ENSP00000425003.1:p.Ala221=
ENST00000508104.2:c.663G>T	ENSP00000426042.2:p.Ala221=
NM_001193376.1:c.663G>T	NP_001180305.1:p.Ala221=
NM_198253.2:c.663G>T , LRG_343t1:c.663G>T	NP_937983.2:p.Ala221=
NR_149162.1:n.721G>T
NR_149163.1:n.721G>T
NM_001193376.2:c.663G>T	NP_001180305.1:p.Ala221=
NM_198253.3:c.663G>T MANE Select	NP_937983.2:p.Ala221=
NR_149162.2:n.742G>T
NR_149163.2:n.742G>T
NM_001193376.3:c.663G>T	NP_001180305.1:p.Ala221=
NR_149162.3:n.742G>T
NR_149163.3:n.742G>T