Canonical Allele Identifier: CA2616301425

Gene: TREH

Linked Data

• gnomAD v4: 11-118663296-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663296G>A , CM000673.2:g.118663296G>A	GRCh38
NC_000011.9:g.118534005G>A , CM000673.1:g.118534005G>A	GRCh37
NC_000011.8:g.118039215G>A	NCBI36
NG_023321.1:g.21377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.190+43C>T MANE Select	ENSP00000264029.5:n.190+43C>T
ENST00000264029.8:c.190+43C>T	ENSP00000264029.5:n.190+43C>T
ENST00000397925.2:c.190+43C>T	ENSP00000381020.2:n.190+43C>T
ENST00000527558.1:n.153-100C>T
ENST00000531295.5:n.209+43C>T
ENST00000613915.4:c.90-100C>T	ENSP00000477923.1:n.90-100C>T
NM_001301065.1:c.190+43C>T	NP_001287994.1:n.190+43C>T
NM_007180.2:c.190+43C>T	NP_009111.2:n.190+43C>T
XM_011542564.1:c.-233-100C>T	XP_011540866.1:n.-233-100C>T
NM_001301065.2:c.190+43C>T	NP_001287994.1:n.190+43C>T
NM_007180.3:c.190+43C>T MANE Select	NP_009111.2:n.190+43C>T