Canonical Allele Identifier: CA803450954

Gene: TERT

Linked Data

• dbSNP Id: rs1384615710
• gnomAD v3: 5-1266206-T-G
• gnomAD v4: 5-1266206-T-G
• MyVariant Identifiers: chr5:g.1266321T>G (hg19) ; chr5:g.1266206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266206T>G , CM000667.2:g.1266206T>G	GRCh38
NC_000005.9:g.1266321T>G , CM000667.1:g.1266321T>G	GRCh37
NC_000005.8:g.1319321T>G	NCBI36
NG_009265.1:g.33842A>C , LRG_343:g.33842A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2654+258A>C MANE Select	ENSP00000309572.5:n.2654+258A>C
ENST00000656021.1:c.*2200+258A>C	ENSP00000499759.1:n.*2200+258A>C
ENST00000310581.9:c.2654+258A>C	ENSP00000309572.5:n.2654+258A>C
ENST00000334602.10:c.2654+258A>C	ENSP00000334346.6:n.2654+258A>C
ENST00000460137.6:c.2436+258A>C	ENSP00000425003.1:n.2436+258A>C
ENST00000484238.6:n.1285+258A>C
ENST00000503656.1:n.61+258A>C
NM_001193376.1:c.2654+258A>C	NP_001180305.1:n.2654+258A>C
NM_198253.2:c.2654+258A>C , LRG_343t1:c.2654+258A>C	NP_937983.2:n.2654+258A>C
XM_011514104.1:c.1124+258A>C	XP_011512406.1:n.1124+258A>C
XM_011514105.1:c.1010+258A>C	XP_011512407.1:n.1010+258A>C
XM_011514106.1:c.1010+258A>C	XP_011512408.1:n.1010+258A>C
NR_149162.1:n.2530+258A>C
NR_149163.1:n.2494+258A>C
NM_001193376.2:c.2654+258A>C	NP_001180305.1:n.2654+258A>C
NM_198253.3:c.2654+258A>C MANE Select	NP_937983.2:n.2654+258A>C
NR_149162.2:n.2551+258A>C
NR_149163.2:n.2515+258A>C
NM_001193376.3:c.2654+258A>C	NP_001180305.1:n.2654+258A>C
NR_149162.3:n.2551+258A>C
NR_149163.3:n.2515+258A>C