Canonical Allele Identifier: CA382848103

Gene: TREH

Linked Data

• gnomAD v4: 11-118663390-G-T
• MyVariant Identifiers: chr11:g.118534099G>T (hg19) ; chr11:g.118663390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663390G>T , CM000673.2:g.118663390G>T	GRCh38
NC_000011.9:g.118534099G>T , CM000673.1:g.118534099G>T	GRCh37
NC_000011.8:g.118039309G>T	NCBI36
NG_023321.1:g.21283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.139C>A MANE Select	ENSP00000264029.5:p.Leu47Ile
ENST00000264029.8:c.139C>A	ENSP00000264029.5:p.Leu47Ile
ENST00000397925.2:c.139C>A	ENSP00000381020.2:p.Leu47Ile
ENST00000527558.1:n.153-194C>A
ENST00000531295.5:n.158C>A
ENST00000613915.4:c.90-194C>A	ENSP00000477923.1:n.90-194C>A
NM_001301065.1:c.139C>A	NP_001287994.1:p.Leu47Ile
NM_007180.2:c.139C>A	NP_009111.2:p.Leu47Ile
XM_011542564.1:c.-233-194C>A	XP_011540866.1:n.-233-194C>A
NM_001301065.2:c.139C>A	NP_001287994.1:p.Leu47Ile
NM_007180.3:c.139C>A MANE Select	NP_009111.2:p.Leu47Ile