Canonical Allele Identifier: CA382848121

Gene: TREH

Linked Data

• dbSNP Id: rs1475623077
• gnomAD v3: 11-118663398-A-G
• gnomAD v4: 11-118663398-A-G
• MyVariant Identifiers: chr11:g.118534107A>G (hg19) ; chr11:g.118663398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663398A>G , CM000673.2:g.118663398A>G	GRCh38
NC_000011.9:g.118534107A>G , CM000673.1:g.118534107A>G	GRCh37
NC_000011.8:g.118039317A>G	NCBI36
NG_023321.1:g.21275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.131T>C MANE Select	ENSP00000264029.5:p.Met44Thr
ENST00000264029.8:c.131T>C	ENSP00000264029.5:p.Met44Thr
ENST00000397925.2:c.131T>C	ENSP00000381020.2:p.Met44Thr
ENST00000527558.1:n.153-202T>C
ENST00000531295.5:n.150T>C
ENST00000613915.4:c.90-202T>C	ENSP00000477923.1:n.90-202T>C
NM_001301065.1:c.131T>C	NP_001287994.1:p.Met44Thr
NM_007180.2:c.131T>C	NP_009111.2:p.Met44Thr
XM_011542564.1:c.-233-202T>C	XP_011540866.1:n.-233-202T>C
NM_001301065.2:c.131T>C	NP_001287994.1:p.Met44Thr
NM_007180.3:c.131T>C MANE Select	NP_009111.2:p.Met44Thr