Canonical Allele Identifier: CA2616305045
Gene: TREH HGNC NCBI

Linked Data

gnomAD v4: 11-118659720-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118659720G>T , CM000673.2:g.118659720G>T GRCh38
NC_000011.9:g.118530429G>T , CM000673.1:g.118530429G>T GRCh37
NC_000011.8:g.118035639G>T NCBI36
NG_023321.1:g.24953C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264029.9:c.1320+27C>A MANE Select ENSP00000264029.5:n.1320+27C>A
ENST00000264029.8:c.1320+27C>A ENSP00000264029.5:n.1320+27C>A
ENST00000397925.2:c.1227+27C>A ENSP00000381020.2:n.1227+27C>A
ENST00000613915.4:c.*1097+27C>A ENSP00000477923.1:n.*1097+27C>A
NM_001301065.1:c.1227+27C>A NP_001287994.1:n.1227+27C>A
NM_007180.2:c.1320+27C>A NP_009111.2:n.1320+27C>A
XM_011542564.1:c.897+27C>A XP_011540866.1:n.897+27C>A
NM_001301065.2:c.1227+27C>A NP_001287994.1:n.1227+27C>A
NM_007180.3:c.1320+27C>A MANE Select NP_009111.2:n.1320+27C>A
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