Canonical Allele Identifier: CA2610106

Gene: TRH

Linked Data

• ClinVar Variation Id: 260117
• ClinVar RCV Id: RCV000246913 ; RCV001838585
• dbSNP Id: rs5663
• ExAC: 3:129696041 A / G
• gnomAD v2: 3-129696041-A-G
• gnomAD v3: 3-129977198-A-G
• gnomAD v4: 3-129977198-A-G
• MyVariant Identifiers: chr3:g.129696041A>G (hg19) ; chr3:g.129977198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129977198A>G , CM000665.2:g.129977198A>G	GRCh38
NC_000003.11:g.129696041A>G , CM000665.1:g.129696041A>G	GRCh37
NC_000003.10:g.131178731A>G	NCBI36
NG_027816.1:g.7928A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302649.4:c.711A>G MANE Select	ENSP00000303452.3:p.Arg237=
ENST00000302649.3:c.711A>G	ENSP00000303452.3:p.Arg237=
ENST00000507066.1:c.699A>G	ENSP00000426522.1:p.Arg233=
NM_007117.4:c.711A>G	NP_009048.1:p.Arg237=
NM_007117.5:c.711A>G MANE Select	NP_009048.1:p.Arg237=