Canonical Allele Identifier: CA2003585713
Gene: TREH HGNC NCBI

Linked Data

dbSNP Id: rs1565524057
gnomAD v4: 11-118659693-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118659693C>T , CM000673.2:g.118659693C>T GRCh38
NC_000011.9:g.118530402C>T , CM000673.1:g.118530402C>T GRCh37
NC_000011.8:g.118035612C>T NCBI36
NG_023321.1:g.24980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264029.9:c.1320+54G>A MANE Select ENSP00000264029.5:n.1320+54G>A
ENST00000264029.8:c.1320+54G>A ENSP00000264029.5:n.1320+54G>A
ENST00000397925.2:c.1227+54G>A ENSP00000381020.2:n.1227+54G>A
ENST00000613915.4:c.*1097+54G>A ENSP00000477923.1:n.*1097+54G>A
NM_001301065.1:c.1227+54G>A NP_001287994.1:n.1227+54G>A
NM_007180.2:c.1320+54G>A NP_009111.2:n.1320+54G>A
XM_011542564.1:c.897+54G>A XP_011540866.1:n.897+54G>A
NM_001301065.2:c.1227+54G>A NP_001287994.1:n.1227+54G>A
NM_007180.3:c.1320+54G>A MANE Select NP_009111.2:n.1320+54G>A
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