Canonical Allele Identifier: CA6308229

Gene: TREH

Linked Data

• dbSNP Id: rs781808341
• ExAC: 11:118534101 T / G
• gnomAD v2: 11-118534101-T-G
• gnomAD v3: 11-118663392-T-G
• gnomAD v4: 11-118663392-T-G
• MyVariant Identifiers: chr11:g.118534101T>G (hg19) ; chr11:g.118663392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663392T>G , CM000673.2:g.118663392T>G	GRCh38
NC_000011.9:g.118534101T>G , CM000673.1:g.118534101T>G	GRCh37
NC_000011.8:g.118039311T>G	NCBI36
NG_023321.1:g.21281A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.137A>C MANE Select	ENSP00000264029.5:p.Lys46Thr
ENST00000264029.8:c.137A>C	ENSP00000264029.5:p.Lys46Thr
ENST00000397925.2:c.137A>C	ENSP00000381020.2:p.Lys46Thr
ENST00000527558.1:n.153-196A>C
ENST00000531295.5:n.156A>C
ENST00000613915.4:c.90-196A>C	ENSP00000477923.1:n.90-196A>C
NM_001301065.1:c.137A>C	NP_001287994.1:p.Lys46Thr
NM_007180.2:c.137A>C	NP_009111.2:p.Lys46Thr
XM_011542564.1:c.-233-196A>C	XP_011540866.1:n.-233-196A>C
NM_001301065.2:c.137A>C	NP_001287994.1:p.Lys46Thr
NM_007180.3:c.137A>C MANE Select	NP_009111.2:p.Lys46Thr