Canonical Allele Identifier: CA602163357

Gene: TREH

Linked Data

• dbSNP Id: rs1385980655
• gnomAD v2: 11-118530419-G-A
• gnomAD v3: 11-118659710-G-A
• gnomAD v4: 11-118659710-G-A
• MyVariant Identifiers: chr11:g.118530419G>A (hg19) ; chr11:g.118659710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118659710G>A , CM000673.2:g.118659710G>A	GRCh38
NC_000011.9:g.118530419G>A , CM000673.1:g.118530419G>A	GRCh37
NC_000011.8:g.118035629G>A	NCBI36
NG_023321.1:g.24963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.1320+37C>T MANE Select	ENSP00000264029.5:n.1320+37C>T
ENST00000264029.8:c.1320+37C>T	ENSP00000264029.5:n.1320+37C>T
ENST00000397925.2:c.1227+37C>T	ENSP00000381020.2:n.1227+37C>T
ENST00000613915.4:c.*1097+37C>T	ENSP00000477923.1:n.*1097+37C>T
NM_001301065.1:c.1227+37C>T	NP_001287994.1:n.1227+37C>T
NM_007180.2:c.1320+37C>T	NP_009111.2:n.1320+37C>T
XM_011542564.1:c.897+37C>T	XP_011540866.1:n.897+37C>T
NM_001301065.2:c.1227+37C>T	NP_001287994.1:n.1227+37C>T
NM_007180.3:c.1320+37C>T MANE Select	NP_009111.2:n.1320+37C>T