Canonical Allele Identifier: CA10618837

Gene: TERT

Linked Data

• ClinVar Variation Id: 350512
• ClinVar RCV Id: RCV000296334 ; RCV000334997 ; RCV000395895
• dbSNP Id: rs751808151
• gnomAD v2: 5-1253613-A-G
• gnomAD v3: 5-1253498-A-G
• gnomAD v4: 5-1253498-A-G
• MyVariant Identifiers: chr5:g.1253613A>G (hg19) ; chr5:g.1253498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1253498A>G , CM000667.2:g.1253498A>G	GRCh38
NC_000005.9:g.1253613A>G , CM000667.1:g.1253613A>G	GRCh37
NC_000005.8:g.1306613A>G	NCBI36
NG_009265.1:g.46550T>C , LRG_343:g.46550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.*230T>C MANE Select	ENSP00000309572.5:n.*230T>C
ENST00000656021.1:c.*3175T>C	ENSP00000499759.1:n.*3175T>C
ENST00000310581.9:c.*230T>C	ENSP00000309572.5:n.*230T>C
ENST00000484238.6:n.2071T>C
NM_001193376.1:c.*230T>C	NP_001180305.1:n.*230T>C
NM_198253.2:c.*230T>C , LRG_343t1:c.*230T>C	NP_937983.2:n.*230T>C
XM_011514104.1:c.*230T>C	XP_011512406.1:n.*230T>C
XM_011514105.1:c.*230T>C	XP_011512407.1:n.*230T>C
XM_011514106.1:c.*230T>C	XP_011512408.1:n.*230T>C
XR_925683.1:n.287-1176A>G
NR_149162.1:n.3316T>C
NR_149163.1:n.3280T>C
NM_001193376.2:c.*230T>C	NP_001180305.1:n.*230T>C
NM_198253.3:c.*230T>C MANE Select	NP_937983.2:n.*230T>C
NR_149162.2:n.3337T>C
NR_149163.2:n.3301T>C
NM_001193376.3:c.*230T>C	NP_001180305.1:n.*230T>C
NR_149162.3:n.3337T>C
NR_149163.3:n.3301T>C