Canonical Allele Identifier: CA372040935
Gene: TRHR HGNC NCBI

Linked Data

dbSNP Id: rs553777610
gnomAD v2: 8-110099871-A-G
gnomAD v4: 8-109087642-A-G
MyVariant Identifiers: chr8:g.110099871A>G (hg19) chr8:g.109087642A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.109087642A>G , CM000670.2:g.109087642A>G GRCh38
NC_000008.10:g.110099871A>G , CM000670.1:g.110099871A>G GRCh37
NC_000008.9:g.110169047A>G NCBI36
NG_017161.1:g.5196A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000518632.2:c.130A>G MANE Select ENSP00000430711.2:p.Ile44Val
ENST00000311762.2:c.130A>G ENSP00000309818.2:p.Ile44Val
ENST00000518632.1:c.130A>G ENSP00000430711.1:p.Ile44Val
NM_003301.5:c.130A>G NP_003292.1:p.Ile44Val
XM_011517263.1:c.130A>G XP_011515565.1:p.Ile44Val
XM_011517263.2:c.130A>G XP_011515565.1:p.Ile44Val
NM_003301.7:c.130A>G MANE Select NP_003292.1:p.Ile44Val
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Search 100 bp 3'