LDH info

Canonical Allele Identifier: CA122655
Gene: TERT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12730
dbSNP Id: rs34094720

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293652G>A , CM000667.2:g.1293652G>A GRCh38
NC_000005.9:g.1293767G>A , CM000667.1:g.1293767G>A GRCh37
NC_000005.8:g.1346767G>A NCBI36
NG_009265.1:g.6396C>T , LRG_343:g.6396C>T

Transcript Alleles

HGVS Amino-acid change
NM_001193376.1:c.1234C>T VV NP_001180305.1:p.His412Tyr
NM_198253.2:c.1234C>T , LRG_343t1:c.1234C>T NP_937983.2:p.His412Tyr
NR_149162.1:n.1292C>T
NR_149163.1:n.1292C>T
NM_001193376.2:c.1234C>T VV NP_001180305.1:p.His412Tyr
NM_198253.3:c.1234C>T VV MANE Preferred NP_937983.2:p.His412Tyr
NR_149162.2:n.1313C>T
NR_149163.2:n.1313C>T
ENST00000310581.9:c.1234C>T ENSP00000309572.5:p.His412Tyr
ENST00000334602.10:n.1234C>T ENSP00000334346.6:p.His412Tyr
ENST00000460137.6:n.1234C>T ENSP00000425003.1:p.His412Tyr
ENST00000508104.2:n.1234C>T ENSP00000426042.2:p.His412Tyr