Canonical Allele Identifier: CA359066865
Community Standard Title: NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1253817T>A , CM000667.2:g.1253817T>A GRCh38
NC_000005.9:g.1253932T>A , CM000667.1:g.1253932T>A GRCh37
NC_000005.8:g.1306932T>A NCBI36
NG_009265.1:g.46231A>T , LRG_343:g.46231A>T

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3310A>T MANE Select NP_937983.2:p.Ser1104Cys
ENST00000310581.10:c.3310A>T MANE Select ENSP00000309572.5:p.Ser1104Cys
NM_001193376.1:c.3121A>T NP_001180305.1:p.Ser1041Cys
NM_001193376.2:c.3121A>T NP_001180305.1:p.Ser1041Cys
NM_001193376.3:c.3121A>T NP_001180305.1:p.Ser1041Cys
NM_198253.2:c.3310A>T , LRG_343t1:c.3310A>T NP_937983.2:p.Ser1104Cys
NR_149162.1:n.2997A>T
NR_149162.2:n.3018A>T
NR_149162.3:n.3018A>T
NR_149163.1:n.2961A>T
NR_149163.2:n.2982A>T
NR_149163.3:n.2982A>T
ENST00000310581.9:c.3310A>T ENSP00000309572.5:p.Ser1104Cys
ENST00000334602.10:c.3121A>T ENSP00000334346.6:p.Ser1041Cys
ENST00000460137.6:c.2903A>T ENSP00000425003.1:n.2903A>T
ENST00000484238.6:n.1752A>T
ENST00000656021.1:c.*2856A>T ENSP00000499759.1:n.*2856A>T
XM_011514104.1:c.1780A>T XP_011512406.1:p.Ser594Cys
XM_011514105.1:c.1666A>T XP_011512407.1:p.Ser556Cys
XM_011514106.1:c.1666A>T XP_011512408.1:p.Ser556Cys
XR_925683.1:n.287-857T>A