Canonical Allele Identifier: CA372040787
Gene: TRHR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.109087570G>T , CM000670.2:g.109087570G>T GRCh38
NC_000008.10:g.110099799G>T , CM000670.1:g.110099799G>T GRCh37
NC_000008.9:g.110168975G>T NCBI36
NG_017161.1:g.5124G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000518632.2:c.58G>T MANE Select ENSP00000430711.2:p.Val20Leu
ENST00000311762.2:c.58G>T ENSP00000309818.2:p.Val20Leu
ENST00000518632.1:c.58G>T ENSP00000430711.1:p.Val20Leu
NM_003301.5:c.58G>T NP_003292.1:p.Val20Leu
XM_011517263.1:c.58G>T XP_011515565.1:p.Val20Leu
XM_011517263.2:c.58G>T XP_011515565.1:p.Val20Leu
NM_003301.7:c.58G>T MANE Select NP_003292.1:p.Val20Leu