Canonical Allele Identifier: CA6307854

Gene: TREH

Linked Data

• dbSNP Id: rs117619140
• ExAC: 11:118530434 G / T
• gnomAD v2: 11-118530434-G-T
• gnomAD v3: 11-118659725-G-T
• gnomAD v4: 11-118659725-G-T
• MyVariant Identifiers: chr11:g.118530434G>T (hg19) ; chr11:g.118659725G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118659725G>T , CM000673.2:g.118659725G>T	GRCh38
NC_000011.9:g.118530434G>T , CM000673.1:g.118530434G>T	GRCh37
NC_000011.8:g.118035644G>T	NCBI36
NG_023321.1:g.24948C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264029.9:c.1320+22C>A MANE Select	ENSP00000264029.5:n.1320+22C>A
ENST00000264029.8:c.1320+22C>A	ENSP00000264029.5:n.1320+22C>A
ENST00000397925.2:c.1227+22C>A	ENSP00000381020.2:n.1227+22C>A
ENST00000613915.4:c.*1097+22C>A	ENSP00000477923.1:n.*1097+22C>A
NM_001301065.1:c.1227+22C>A	NP_001287994.1:n.1227+22C>A
NM_007180.2:c.1320+22C>A	NP_009111.2:n.1320+22C>A
XM_011542564.1:c.897+22C>A	XP_011540866.1:n.897+22C>A
NM_001301065.2:c.1227+22C>A	NP_001287994.1:n.1227+22C>A
NM_007180.3:c.1320+22C>A MANE Select	NP_009111.2:n.1320+22C>A