Canonical Allele Identifier: CA382848105
Gene: TREH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118663391C>G , CM000673.2:g.118663391C>G GRCh38
NC_000011.9:g.118534100C>G , CM000673.1:g.118534100C>G GRCh37
NC_000011.8:g.118039310C>G NCBI36
NG_023321.1:g.21282G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264029.9:c.138G>C MANE Select ENSP00000264029.5:p.Lys46Asn
ENST00000264029.8:c.138G>C ENSP00000264029.5:p.Lys46Asn
ENST00000397925.2:c.138G>C ENSP00000381020.2:p.Lys46Asn
ENST00000527558.1:n.153-195G>C
ENST00000531295.5:n.157G>C
ENST00000613915.4:c.90-195G>C ENSP00000477923.1:n.90-195G>C
NM_001301065.1:c.138G>C NP_001287994.1:p.Lys46Asn
NM_007180.2:c.138G>C NP_009111.2:p.Lys46Asn
XM_011542564.1:c.-233-195G>C XP_011540866.1:n.-233-195G>C
NM_001301065.2:c.138G>C NP_001287994.1:p.Lys46Asn
NM_007180.3:c.138G>C MANE Select NP_009111.2:p.Lys46Asn