Canonical Allele Identifier: CA2616305028
Gene: TREH HGNC NCBI

Linked Data

gnomAD v4: 11-118659709-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118659709T>C , CM000673.2:g.118659709T>C GRCh38
NC_000011.9:g.118530418T>C , CM000673.1:g.118530418T>C GRCh37
NC_000011.8:g.118035628T>C NCBI36
NG_023321.1:g.24964A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264029.9:c.1320+38A>G MANE Select ENSP00000264029.5:n.1320+38A>G
ENST00000264029.8:c.1320+38A>G ENSP00000264029.5:n.1320+38A>G
ENST00000397925.2:c.1227+38A>G ENSP00000381020.2:n.1227+38A>G
ENST00000613915.4:c.*1097+38A>G ENSP00000477923.1:n.*1097+38A>G
NM_001301065.1:c.1227+38A>G NP_001287994.1:n.1227+38A>G
NM_007180.2:c.1320+38A>G NP_009111.2:n.1320+38A>G
XM_011542564.1:c.897+38A>G XP_011540866.1:n.897+38A>G
NM_001301065.2:c.1227+38A>G NP_001287994.1:n.1227+38A>G
NM_007180.3:c.1320+38A>G MANE Select NP_009111.2:n.1320+38A>G
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