Canonical Allele Identifier: CA359058775

Gene: TERT

Linked Data

• gnomAD v4: 5-1294778-A-G
• MyVariant Identifiers: chr5:g.1294893A>G (hg19) ; chr5:g.1294778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294778A>G , CM000667.2:g.1294778A>G	GRCh38
NC_000005.9:g.1294893A>G , CM000667.1:g.1294893A>G	GRCh37
NC_000005.8:g.1347893A>G	NCBI36
NG_009265.1:g.5270T>C , LRG_343:g.5270T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.212T>C MANE Select	ENSP00000309572.5:p.Phe71Ser
ENST00000656021.1:c.212T>C	ENSP00000499759.1:p.Phe71Ser
ENST00000310581.9:c.212T>C	ENSP00000309572.5:p.Phe71Ser
ENST00000334602.10:c.212T>C	ENSP00000334346.6:p.Phe71Ser
ENST00000460137.6:c.212T>C	ENSP00000425003.1:p.Phe71Ser
ENST00000508104.2:c.212T>C	ENSP00000426042.2:p.Phe71Ser
ENST00000522877.1:n.292T>C
NM_001193376.1:c.212T>C	NP_001180305.1:p.Phe71Ser
NM_198253.2:c.212T>C , LRG_343t1:c.212T>C	NP_937983.2:p.Phe71Ser
NR_149162.1:n.270T>C
NR_149163.1:n.270T>C
NM_001193376.2:c.212T>C	NP_001180305.1:p.Phe71Ser
NM_198253.3:c.212T>C MANE Select	NP_937983.2:p.Phe71Ser
NR_149162.2:n.291T>C
NR_149163.2:n.291T>C
NM_001193376.3:c.212T>C	NP_001180305.1:p.Phe71Ser
NR_149162.3:n.291T>C
NR_149163.3:n.291T>C