Canonical Allele Identifier: CA379126547

Gene: TH

Linked Data

• ClinVar Variation Id: 1357568
• ClinVar RCV Id: RCV001894009
• dbSNP Id: rs2133693418
• MyVariant Identifiers: chr11:g.2188134A>C (hg19) ; chr11:g.2166904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166904A>C , CM000673.2:g.2166904A>C	GRCh38
NC_000011.9:g.2188134A>C , CM000673.1:g.2188134A>C	GRCh37
NC_000011.8:g.2144710A>C	NCBI36
NG_008128.1:g.9902T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.824T>G MANE Select	ENSP00000325951.4:p.Val275Gly
ENST00000324155.8:c.*513T>G	ENSP00000325831.3:n.*513T>G
ENST00000333684.9:c.696-355T>G	ENSP00000328814.6:n.696-355T>G
ENST00000352909.7:c.824T>G	ENSP00000325951.3:p.Val275Gly
ENST00000381168.7:c.*544T>G	ENSP00000370560.3:n.*544T>G
ENST00000381175.5:c.905T>G	ENSP00000370567.1:p.Val302Gly
ENST00000381178.5:c.917T>G	ENSP00000370571.1:p.Val306Gly
ENST00000412076.1:c.136-355T>G
ENST00000416223.5:c.136-136T>G
ENST00000469226.1:n.953T>G
ENST00000479437.5:n.373T>G
NM_000360.3:c.824T>G	NP_000351.2:p.Val275Gly
NM_199292.2:c.917T>G	NP_954986.2:p.Val306Gly
NM_199293.2:c.905T>G	NP_954987.2:p.Val302Gly
XM_011520335.1:c.836T>G	XP_011518637.1:p.Val279Gly
XM_011520335.2:c.836T>G	XP_011518637.1:p.Val279Gly
NM_000360.4:c.824T>G MANE Select	NP_000351.2:p.Val275Gly
NM_199292.3:c.917T>G	NP_954986.2:p.Val306Gly
NM_199293.3:c.905T>G	NP_954987.2:p.Val302Gly