Canonical Allele Identifier: CA6308230

Gene: TREH

Linked Data

• dbSNP Id: rs782451943
• ExAC: 11:118534109 T / C
• gnomAD v2: 11-118534109-T-C
• gnomAD v4: 11-118663400-T-C
• MyVariant Identifiers: chr11:g.118534109T>C (hg19) ; chr11:g.118663400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663400T>C , CM000673.2:g.118663400T>C	GRCh38
NC_000011.9:g.118534109T>C , CM000673.1:g.118534109T>C	GRCh37
NC_000011.8:g.118039319T>C	NCBI36
NG_023321.1:g.21273A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264029.9:c.129A>G MANE Select	ENSP00000264029.5:p.Gln43=
ENST00000264029.8:c.129A>G	ENSP00000264029.5:p.Gln43=
ENST00000397925.2:c.129A>G	ENSP00000381020.2:p.Gln43=
ENST00000527558.1:n.153-204A>G
ENST00000531295.5:n.148A>G
ENST00000613915.4:c.90-204A>G	ENSP00000477923.1:n.90-204A>G
NM_001301065.1:c.129A>G	NP_001287994.1:p.Gln43=
NM_007180.2:c.129A>G	NP_009111.2:p.Gln43=
XM_011542564.1:c.-233-204A>G	XP_011540866.1:n.-233-204A>G
NM_001301065.2:c.129A>G	NP_001287994.1:p.Gln43=
NM_007180.3:c.129A>G MANE Select	NP_009111.2:p.Gln43=