Canonical Allele Identifier: CA2003585749
Gene: TREH HGNC NCBI

Linked Data

dbSNP Id: rs1949290905
gnomAD v4: 11-118659714-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118659714G>C , CM000673.2:g.118659714G>C GRCh38
NC_000011.9:g.118530423G>C , CM000673.1:g.118530423G>C GRCh37
NC_000011.8:g.118035633G>C NCBI36
NG_023321.1:g.24959C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264029.9:c.1320+33C>G MANE Select ENSP00000264029.5:n.1320+33C>G
ENST00000264029.8:c.1320+33C>G ENSP00000264029.5:n.1320+33C>G
ENST00000397925.2:c.1227+33C>G ENSP00000381020.2:n.1227+33C>G
ENST00000613915.4:c.*1097+33C>G ENSP00000477923.1:n.*1097+33C>G
NM_001301065.1:c.1227+33C>G NP_001287994.1:n.1227+33C>G
NM_007180.2:c.1320+33C>G NP_009111.2:n.1320+33C>G
XM_011542564.1:c.897+33C>G XP_011540866.1:n.897+33C>G
NM_001301065.2:c.1227+33C>G NP_001287994.1:n.1227+33C>G
NM_007180.3:c.1320+33C>G MANE Select NP_009111.2:n.1320+33C>G
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