Canonical Allele Identifier: CA372040777
Gene: TRHR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.109087565C>T , CM000670.2:g.109087565C>T GRCh38
NC_000008.10:g.110099794C>T , CM000670.1:g.110099794C>T GRCh37
NC_000008.9:g.110168970C>T NCBI36
NG_017161.1:g.5119C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000518632.2:c.53C>T MANE Select ENSP00000430711.2:p.Ala18Val
ENST00000311762.2:c.53C>T ENSP00000309818.2:p.Ala18Val
ENST00000518632.1:c.53C>T ENSP00000430711.1:p.Ala18Val
NM_003301.5:c.53C>T NP_003292.1:p.Ala18Val
XM_011517263.1:c.53C>T XP_011515565.1:p.Ala18Val
XM_011517263.2:c.53C>T XP_011515565.1:p.Ala18Val
NM_003301.7:c.53C>T MANE Select NP_003292.1:p.Ala18Val