Canonical Allele Identifier: CA1522560238

Gene: TERT

Linked Data

• dbSNP Id: rs1749492774
• gnomAD v3: 5-1275448-A-G
• gnomAD v4: 5-1275448-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275448A>G , CM000667.2:g.1275448A>G	GRCh38
NC_000005.9:g.1275563A>G , CM000667.1:g.1275563A>G	GRCh37
NC_000005.8:g.1328563A>G	NCBI36
NG_009265.1:g.24600T>C , LRG_343:g.24600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2287-3168T>C MANE Select	ENSP00000309572.5:n.2287-3168T>C
ENST00000656021.1:c.*1833-3168T>C	ENSP00000499759.1:n.*1833-3168T>C
ENST00000310581.9:c.2287-3168T>C	ENSP00000309572.5:n.2287-3168T>C
ENST00000334602.10:c.2287-3168T>C	ENSP00000334346.6:n.2287-3168T>C
ENST00000460137.6:c.2250+3193T>C	ENSP00000425003.1:n.2250+3193T>C
ENST00000484238.6:n.1099+3193T>C
ENST00000508104.2:c.2286+3193T>C	ENSP00000426042.2:n.2286+3193T>C
NM_001193376.1:c.2287-3168T>C	NP_001180305.1:n.2287-3168T>C
NM_198253.2:c.2287-3168T>C , LRG_343t1:c.2287-3168T>C	NP_937983.2:n.2287-3168T>C
XM_011514104.1:c.757-3168T>C	XP_011512406.1:n.757-3168T>C
XM_011514105.1:c.643-3168T>C	XP_011512407.1:n.643-3168T>C
XM_011514106.1:c.643-3168T>C	XP_011512408.1:n.643-3168T>C
NR_149162.1:n.2344+3193T>C
NR_149163.1:n.2308+3193T>C
NM_001193376.2:c.2287-3168T>C	NP_001180305.1:n.2287-3168T>C
NM_198253.3:c.2287-3168T>C MANE Select	NP_937983.2:n.2287-3168T>C
NR_149162.2:n.2365+3193T>C
NR_149163.2:n.2329+3193T>C
NM_001193376.3:c.2287-3168T>C	NP_001180305.1:n.2287-3168T>C
NR_149162.3:n.2365+3193T>C
NR_149163.3:n.2329+3193T>C