Canonical Allele Identifier: CA382848097

Gene: TREH

Linked Data

• gnomAD v4: 11-118663387-A-T
• MyVariant Identifiers: chr11:g.118534096A>T (hg19) ; chr11:g.118663387A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663387A>T , CM000673.2:g.118663387A>T	GRCh38
NC_000011.9:g.118534096A>T , CM000673.1:g.118534096A>T	GRCh37
NC_000011.8:g.118039306A>T	NCBI36
NG_023321.1:g.21286T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.142T>A MANE Select	ENSP00000264029.5:p.Tyr48Asn
ENST00000264029.8:c.142T>A	ENSP00000264029.5:p.Tyr48Asn
ENST00000397925.2:c.142T>A	ENSP00000381020.2:p.Tyr48Asn
ENST00000527558.1:n.153-191T>A
ENST00000531295.5:n.161T>A
ENST00000613915.4:c.90-191T>A	ENSP00000477923.1:n.90-191T>A
NM_001301065.1:c.142T>A	NP_001287994.1:p.Tyr48Asn
NM_007180.2:c.142T>A	NP_009111.2:p.Tyr48Asn
XM_011542564.1:c.-233-191T>A	XP_011540866.1:n.-233-191T>A
NM_001301065.2:c.142T>A	NP_001287994.1:p.Tyr48Asn
NM_007180.3:c.142T>A MANE Select	NP_009111.2:p.Tyr48Asn