Canonical Allele Identifier: CA379127126

Gene: TH

Linked Data

• ClinVar Variation Id: 1303321
• ClinVar RCV Id: RCV001757876
• dbSNP Id: rs2133693875
• MyVariant Identifiers: chr11:g.2188252A>C (hg19) ; chr11:g.2167022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167022A>C , CM000673.2:g.2167022A>C	GRCh38
NC_000011.9:g.2188252A>C , CM000673.1:g.2188252A>C	GRCh37
NC_000011.8:g.2144828A>C	NCBI36
NG_008128.1:g.9784T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.706T>G MANE Select	ENSP00000325951.4:p.Tyr236Asp
ENST00000324155.8:c.*395T>G	ENSP00000325831.3:n.*395T>G
ENST00000333684.9:c.695+413T>G	ENSP00000328814.6:n.695+413T>G
ENST00000352909.7:c.706T>G	ENSP00000325951.3:p.Tyr236Asp
ENST00000381168.7:c.*426T>G	ENSP00000370560.3:n.*426T>G
ENST00000381175.5:c.787T>G	ENSP00000370567.1:p.Tyr263Asp
ENST00000381178.5:c.799T>G	ENSP00000370571.1:p.Tyr267Asp
ENST00000412076.1:c.135+413T>G
ENST00000416223.5:c.136-254T>G
ENST00000469226.1:n.835T>G
ENST00000479437.5:n.255T>G
NM_000360.3:c.706T>G	NP_000351.2:p.Tyr236Asp
NM_199292.2:c.799T>G	NP_954986.2:p.Tyr267Asp
NM_199293.2:c.787T>G	NP_954987.2:p.Tyr263Asp
XM_011520335.1:c.718T>G	XP_011518637.1:p.Tyr240Asp
XM_011520335.2:c.718T>G	XP_011518637.1:p.Tyr240Asp
NM_000360.4:c.706T>G MANE Select	NP_000351.2:p.Tyr236Asp
NM_199292.3:c.799T>G	NP_954986.2:p.Tyr267Asp
NM_199293.3:c.787T>G	NP_954987.2:p.Tyr263Asp