Canonical Allele Identifier: CA443240595
Gene: TERT HGNC NCBI

Linked Data

gnomAD v4: 5-1293659-G-A
MyVariant Identifiers: chr5:g.1293774G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293659G>A , CM000667.2:g.1293659G>A GRCh38
NC_000005.9:g.1293774G>A , CM000667.1:g.1293774G>A GRCh37
NC_000005.8:g.1346774G>A NCBI36
NG_009265.1:g.6389C>T , LRG_343:g.6389C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310581.10:c.1227C>T MANE Select ENSP00000309572.5:p.Leu409=
ENST00000656021.1:c.1227C>T ENSP00000499759.1:p.Leu409=
ENST00000310581.9:c.1227C>T ENSP00000309572.5:p.Leu409=
ENST00000334602.10:c.1227C>T ENSP00000334346.6:p.Leu409=
ENST00000460137.6:c.1227C>T ENSP00000425003.1:p.Leu409=
ENST00000508104.2:c.1227C>T ENSP00000426042.2:p.Leu409=
NM_001193376.1:c.1227C>T NP_001180305.1:p.Leu409=
NM_198253.2:c.1227C>T , LRG_343t1:c.1227C>T NP_937983.2:p.Leu409=
NR_149162.1:n.1285C>T
NR_149163.1:n.1285C>T
NM_001193376.2:c.1227C>T NP_001180305.1:p.Leu409=
NM_198253.3:c.1227C>T MANE Select NP_937983.2:p.Leu409=
NR_149162.2:n.1306C>T
NR_149163.2:n.1306C>T
NM_001193376.3:c.1227C>T NP_001180305.1:p.Leu409=
NR_149162.3:n.1306C>T
NR_149163.3:n.1306C>T