Canonical Allele Identifier: CA6308220

Gene: TREH

Linked Data

• dbSNP Id: rs573944469
• ExAC: 11:118534026 C / T
• gnomAD v2: 11-118534026-C-T
• gnomAD v3: 11-118663317-C-T
• gnomAD v4: 11-118663317-C-T
• MyVariant Identifiers: chr11:g.118534026C>T (hg19) ; chr11:g.118663317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663317C>T , CM000673.2:g.118663317C>T	GRCh38
NC_000011.9:g.118534026C>T , CM000673.1:g.118534026C>T	GRCh37
NC_000011.8:g.118039236C>T	NCBI36
NG_023321.1:g.21356G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264029.9:c.190+22G>A MANE Select	ENSP00000264029.5:n.190+22G>A
ENST00000264029.8:c.190+22G>A	ENSP00000264029.5:n.190+22G>A
ENST00000397925.2:c.190+22G>A	ENSP00000381020.2:n.190+22G>A
ENST00000527558.1:n.153-121G>A
ENST00000531295.5:n.209+22G>A
ENST00000613915.4:c.90-121G>A	ENSP00000477923.1:n.90-121G>A
NM_001301065.1:c.190+22G>A	NP_001287994.1:n.190+22G>A
NM_007180.2:c.190+22G>A	NP_009111.2:n.190+22G>A
XM_011542564.1:c.-233-121G>A	XP_011540866.1:n.-233-121G>A
NM_001301065.2:c.190+22G>A	NP_001287994.1:n.190+22G>A
NM_007180.3:c.190+22G>A MANE Select	NP_009111.2:n.190+22G>A