Canonical Allele Identifier: CA379127127

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188252A>G (hg19) ; chr11:g.2167022A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.706T>C MANE Select	ENSP00000325951.4:p.Tyr236His
ENST00000324155.8:c.*395T>C	ENSP00000325831.3:n.*395T>C
ENST00000333684.9:c.695+413T>C	ENSP00000328814.6:n.695+413T>C
ENST00000352909.7:c.706T>C	ENSP00000325951.3:p.Tyr236His
ENST00000381168.7:c.*426T>C	ENSP00000370560.3:n.*426T>C
ENST00000381175.5:c.787T>C	ENSP00000370567.1:p.Tyr263His
ENST00000381178.5:c.799T>C	ENSP00000370571.1:p.Tyr267His
ENST00000412076.1:c.135+413T>C
ENST00000416223.5:c.136-254T>C
ENST00000469226.1:n.835T>C
ENST00000479437.5:n.255T>C
NM_000360.3:c.706T>C	NP_000351.2:p.Tyr236His
NM_199292.2:c.799T>C	NP_954986.2:p.Tyr267His
NM_199293.2:c.787T>C	NP_954987.2:p.Tyr263His
XM_011520335.1:c.718T>C	XP_011518637.1:p.Tyr240His
XM_011520335.2:c.718T>C	XP_011518637.1:p.Tyr240His
NM_000360.4:c.706T>C MANE Select	NP_000351.2:p.Tyr236His
NM_199292.3:c.799T>C	NP_954986.2:p.Tyr267His
NM_199293.3:c.787T>C	NP_954987.2:p.Tyr263His