Canonical Allele Identifier: CA803450928

Gene: TERT

Linked Data

• dbSNP Id: rs1170674256
• gnomAD v3: 5-1266127-A-G
• gnomAD v4: 5-1266127-A-G
• MyVariant Identifiers: chr5:g.1266242A>G (hg19) ; chr5:g.1266127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266127A>G , CM000667.2:g.1266127A>G	GRCh38
NC_000005.9:g.1266242A>G , CM000667.1:g.1266242A>G	GRCh37
NC_000005.8:g.1319242A>G	NCBI36
NG_009265.1:g.33921T>C , LRG_343:g.33921T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2654+337T>C MANE Select	ENSP00000309572.5:n.2654+337T>C
ENST00000656021.1:c.*2200+337T>C	ENSP00000499759.1:n.*2200+337T>C
ENST00000310581.9:c.2654+337T>C	ENSP00000309572.5:n.2654+337T>C
ENST00000334602.10:c.2654+337T>C	ENSP00000334346.6:n.2654+337T>C
ENST00000460137.6:c.2436+337T>C	ENSP00000425003.1:n.2436+337T>C
ENST00000484238.6:n.1285+337T>C
ENST00000503656.1:n.61+337T>C
NM_001193376.1:c.2654+337T>C	NP_001180305.1:n.2654+337T>C
NM_198253.2:c.2654+337T>C , LRG_343t1:c.2654+337T>C	NP_937983.2:n.2654+337T>C
XM_011514104.1:c.1124+337T>C	XP_011512406.1:n.1124+337T>C
XM_011514105.1:c.1010+337T>C	XP_011512407.1:n.1010+337T>C
XM_011514106.1:c.1010+337T>C	XP_011512408.1:n.1010+337T>C
NR_149162.1:n.2530+337T>C
NR_149163.1:n.2494+337T>C
NM_001193376.2:c.2654+337T>C	NP_001180305.1:n.2654+337T>C
NM_198253.3:c.2654+337T>C MANE Select	NP_937983.2:n.2654+337T>C
NR_149162.2:n.2551+337T>C
NR_149163.2:n.2515+337T>C
NM_001193376.3:c.2654+337T>C	NP_001180305.1:n.2654+337T>C
NR_149162.3:n.2551+337T>C
NR_149163.3:n.2515+337T>C