Canonical Allele Identifier: CA379126998

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188225T>C (hg19) ; chr11:g.2166995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166995T>C , CM000673.2:g.2166995T>C	GRCh38
NC_000011.9:g.2188225T>C , CM000673.1:g.2188225T>C	GRCh37
NC_000011.8:g.2144801T>C	NCBI36
NG_008128.1:g.9811A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.733A>G MANE Select	ENSP00000325951.4:p.Thr245Ala
ENST00000324155.8:c.*422A>G	ENSP00000325831.3:n.*422A>G
ENST00000333684.9:c.695+440A>G	ENSP00000328814.6:n.695+440A>G
ENST00000352909.7:c.733A>G	ENSP00000325951.3:p.Thr245Ala
ENST00000381168.7:c.*453A>G	ENSP00000370560.3:n.*453A>G
ENST00000381175.5:c.814A>G	ENSP00000370567.1:p.Thr272Ala
ENST00000381178.5:c.826A>G	ENSP00000370571.1:p.Thr276Ala
ENST00000412076.1:c.135+440A>G
ENST00000416223.5:c.136-227A>G
ENST00000469226.1:n.862A>G
ENST00000479437.5:n.282A>G
NM_000360.3:c.733A>G	NP_000351.2:p.Thr245Ala
NM_199292.2:c.826A>G	NP_954986.2:p.Thr276Ala
NM_199293.2:c.814A>G	NP_954987.2:p.Thr272Ala
XM_011520335.1:c.745A>G	XP_011518637.1:p.Thr249Ala
XM_011520335.2:c.745A>G	XP_011518637.1:p.Thr249Ala
NM_000360.4:c.733A>G MANE Select	NP_000351.2:p.Thr245Ala
NM_199292.3:c.826A>G	NP_954986.2:p.Thr276Ala
NM_199293.3:c.814A>G	NP_954987.2:p.Thr272Ala