Canonical Allele Identifier: CA359058717

Gene: TERT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294659C>G , CM000667.2:g.1294659C>G	GRCh38
NC_000005.9:g.1294774C>G , CM000667.1:g.1294774C>G	GRCh37
NC_000005.8:g.1347774C>G	NCBI36
NG_009265.1:g.5389G>C , LRG_343:g.5389G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198253.3:c.227G>C MANE Select	NP_937983.2:p.Cys76Ser
ENST00000310581.10:c.227G>C MANE Select	ENSP00000309572.5:p.Cys76Ser
NM_001193376.1:c.227G>C	NP_001180305.1:p.Cys76Ser
NM_001193376.2:c.227G>C	NP_001180305.1:p.Cys76Ser
NM_001193376.3:c.227G>C	NP_001180305.1:p.Cys76Ser
NM_198253.2:c.227G>C , LRG_343t1:c.227G>C	NP_937983.2:p.Cys76Ser
NR_149162.1:n.285G>C
NR_149162.2:n.306G>C
NR_149162.3:n.306G>C
NR_149163.1:n.285G>C
NR_149163.2:n.306G>C
NR_149163.3:n.306G>C
ENST00000310581.9:c.227G>C	ENSP00000309572.5:p.Cys76Ser
ENST00000334602.10:c.227G>C	ENSP00000334346.6:p.Cys76Ser
ENST00000460137.6:c.227G>C	ENSP00000425003.1:p.Cys76Ser
ENST00000508104.2:c.227G>C	ENSP00000426042.2:p.Cys76Ser
ENST00000522877.1:n.307G>C
ENST00000656021.1:c.227G>C	ENSP00000499759.1:p.Cys76Ser