Canonical Allele Identifier: CA382848093
Gene: TREH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118663386T>C , CM000673.2:g.118663386T>C GRCh38
NC_000011.9:g.118534095T>C , CM000673.1:g.118534095T>C GRCh37
NC_000011.8:g.118039305T>C NCBI36
NG_023321.1:g.21287A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264029.9:c.143A>G MANE Select ENSP00000264029.5:p.Tyr48Cys
ENST00000264029.8:c.143A>G ENSP00000264029.5:p.Tyr48Cys
ENST00000397925.2:c.143A>G ENSP00000381020.2:p.Tyr48Cys
ENST00000527558.1:n.153-190A>G
ENST00000531295.5:n.162A>G
ENST00000613915.4:c.90-190A>G ENSP00000477923.1:n.90-190A>G
NM_001301065.1:c.143A>G NP_001287994.1:p.Tyr48Cys
NM_007180.2:c.143A>G NP_009111.2:p.Tyr48Cys
XM_011542564.1:c.-233-190A>G XP_011540866.1:n.-233-190A>G
NM_001301065.2:c.143A>G NP_001287994.1:p.Tyr48Cys
NM_007180.3:c.143A>G MANE Select NP_009111.2:p.Tyr48Cys