Canonical Allele Identifier: CA382842128

Gene: TREH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118658994G>C , CM000673.2:g.118658994G>C	GRCh38
NC_000011.9:g.118529703G>C , CM000673.1:g.118529703G>C	GRCh37
NC_000011.8:g.118034913G>C	NCBI36
NG_023321.1:g.25679C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007180.3:c.1456C>G MANE Select	NP_009111.2:p.Arg486Gly
ENST00000264029.9:c.1456C>G MANE Select	ENSP00000264029.5:p.Arg486Gly
NM_001301065.1:c.1363C>G	NP_001287994.1:p.Arg455Gly
NM_001301065.2:c.1363C>G	NP_001287994.1:p.Arg455Gly
NM_007180.2:c.1456C>G	NP_009111.2:p.Arg486Gly
ENST00000264029.8:c.1456C>G	ENSP00000264029.5:p.Arg486Gly
ENST00000397925.2:c.1363C>G	ENSP00000381020.2:p.Arg455Gly
ENST00000613915.4:c.*1233C>G	ENSP00000477923.1:n.*1233C>G
XM_011542564.1:c.1033C>G	XP_011540866.1:p.Arg345Gly