Canonical Allele Identifier: CA3184707

Gene: TERT

Linked Data

• dbSNP Id: rs772401878
• ExAC: 5:1279635 G / A
• gnomAD v2: 5-1279635-G-A
• gnomAD v3: 5-1279520-G-A
• gnomAD v4: 5-1279520-G-A
• MyVariant Identifiers: chr5:g.1279635G>A (hg19) ; chr5:g.1279520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279520G>A , CM000667.2:g.1279520G>A	GRCh38
NC_000005.9:g.1279635G>A , CM000667.1:g.1279635G>A	GRCh37
NC_000005.8:g.1332635G>A	NCBI36
NG_009265.1:g.20528C>T , LRG_343:g.20528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1951-50C>T MANE Select	ENSP00000309572.5:n.1951-50C>T
ENST00000656021.1:c.*1497-50C>T	ENSP00000499759.1:n.*1497-50C>T
ENST00000310581.9:c.1951-50C>T	ENSP00000309572.5:n.1951-50C>T
ENST00000334602.10:c.1951-50C>T	ENSP00000334346.6:n.1951-50C>T
ENST00000460137.6:c.1951-50C>T	ENSP00000425003.1:n.1951-50C>T
ENST00000484238.6:n.764-50C>T
ENST00000508104.2:c.1951-50C>T	ENSP00000426042.2:n.1951-50C>T
NM_001193376.1:c.1951-50C>T	NP_001180305.1:n.1951-50C>T
NM_198253.2:c.1951-50C>T , LRG_343t1:c.1951-50C>T	NP_937983.2:n.1951-50C>T
XM_011514104.1:c.421-50C>T	XP_011512406.1:n.421-50C>T
XM_011514105.1:c.307-50C>T	XP_011512407.1:n.307-50C>T
XM_011514106.1:c.307-50C>T	XP_011512408.1:n.307-50C>T
NR_149162.1:n.2009-50C>T
NR_149163.1:n.2009-50C>T
NM_001193376.2:c.1951-50C>T	NP_001180305.1:n.1951-50C>T
NM_198253.3:c.1951-50C>T MANE Select	NP_937983.2:n.1951-50C>T
NR_149162.2:n.2030-50C>T
NR_149163.2:n.2030-50C>T
NM_001193376.3:c.1951-50C>T	NP_001180305.1:n.1951-50C>T
NR_149162.3:n.2030-50C>T
NR_149163.3:n.2030-50C>T