Canonical Allele Identifier: CA10618838

Gene: TERT

Linked Data

• ClinVar Variation Id: 350514
• ClinVar RCV Id: RCV000269203 ; RCV000304398 ; RCV000361490
• dbSNP Id: rs886059830
• gnomAD v2: 5-1253739-G-A
• gnomAD v3: 5-1253624-G-A
• gnomAD v4: 5-1253624-G-A
• MyVariant Identifiers: chr5:g.1253739G>A (hg19) ; chr5:g.1253624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1253624G>A , CM000667.2:g.1253624G>A	GRCh38
NC_000005.9:g.1253739G>A , CM000667.1:g.1253739G>A	GRCh37
NC_000005.8:g.1306739G>A	NCBI36
NG_009265.1:g.46424C>T , LRG_343:g.46424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.*104C>T MANE Select	ENSP00000309572.5:n.*104C>T
ENST00000656021.1:c.*3049C>T	ENSP00000499759.1:n.*3049C>T
ENST00000310581.9:c.*104C>T	ENSP00000309572.5:n.*104C>T
ENST00000484238.6:n.1945C>T
NM_001193376.1:c.*104C>T	NP_001180305.1:n.*104C>T
NM_198253.2:c.*104C>T , LRG_343t1:c.*104C>T	NP_937983.2:n.*104C>T
XM_011514104.1:c.*104C>T	XP_011512406.1:n.*104C>T
XM_011514105.1:c.*104C>T	XP_011512407.1:n.*104C>T
XM_011514106.1:c.*104C>T	XP_011512408.1:n.*104C>T
XR_925683.1:n.287-1050G>A
NR_149162.1:n.3190C>T
NR_149163.1:n.3154C>T
NM_001193376.2:c.*104C>T	NP_001180305.1:n.*104C>T
NM_198253.3:c.*104C>T MANE Select	NP_937983.2:n.*104C>T
NR_149162.2:n.3211C>T
NR_149163.2:n.3175C>T
NM_001193376.3:c.*104C>T	NP_001180305.1:n.*104C>T
NR_149162.3:n.3211C>T
NR_149163.3:n.3175C>T