Canonical Allele Identifier: CA477363913

Gene: TREH

Linked Data

• gnomAD v4: 11-118663388-G-T
• MyVariant Identifiers: chr11:g.118534097G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663388G>T , CM000673.2:g.118663388G>T	GRCh38
NC_000011.9:g.118534097G>T , CM000673.1:g.118534097G>T	GRCh37
NC_000011.8:g.118039307G>T	NCBI36
NG_023321.1:g.21285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.141C>A MANE Select	ENSP00000264029.5:p.Leu47=
ENST00000264029.8:c.141C>A	ENSP00000264029.5:p.Leu47=
ENST00000397925.2:c.141C>A	ENSP00000381020.2:p.Leu47=
ENST00000527558.1:n.153-192C>A
ENST00000531295.5:n.160C>A
ENST00000613915.4:c.90-192C>A	ENSP00000477923.1:n.90-192C>A
NM_001301065.1:c.141C>A	NP_001287994.1:p.Leu47=
NM_007180.2:c.141C>A	NP_009111.2:p.Leu47=
XM_011542564.1:c.-233-192C>A	XP_011540866.1:n.-233-192C>A
NM_001301065.2:c.141C>A	NP_001287994.1:p.Leu47=
NM_007180.3:c.141C>A MANE Select	NP_009111.2:p.Leu47=