Canonical Allele Identifier: CA382848117

Gene: TREH

Linked Data

• dbSNP Id: rs1555145384
• gnomAD v2: 11-118534106-C-A
• gnomAD v4: 11-118663397-C-A
• MyVariant Identifiers: chr11:g.118534106C>A (hg19) ; chr11:g.118663397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118663397C>A , CM000673.2:g.118663397C>A	GRCh38
NC_000011.9:g.118534106C>A , CM000673.1:g.118534106C>A	GRCh37
NC_000011.8:g.118039316C>A	NCBI36
NG_023321.1:g.21276G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264029.9:c.132G>T MANE Select	ENSP00000264029.5:p.Met44Ile
ENST00000264029.8:c.132G>T	ENSP00000264029.5:p.Met44Ile
ENST00000397925.2:c.132G>T	ENSP00000381020.2:p.Met44Ile
ENST00000527558.1:n.153-201G>T
ENST00000531295.5:n.151G>T
ENST00000613915.4:c.90-201G>T	ENSP00000477923.1:n.90-201G>T
NM_001301065.1:c.132G>T	NP_001287994.1:p.Met44Ile
NM_007180.2:c.132G>T	NP_009111.2:p.Met44Ile
XM_011542564.1:c.-233-201G>T	XP_011540866.1:n.-233-201G>T
NM_001301065.2:c.132G>T	NP_001287994.1:p.Met44Ile
NM_007180.3:c.132G>T MANE Select	NP_009111.2:p.Met44Ile