Canonical Allele Identifier: CA379126680

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188161T>G (hg19) ; chr11:g.2166931T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166931T>G , CM000673.2:g.2166931T>G	GRCh38
NC_000011.9:g.2188161T>G , CM000673.1:g.2188161T>G	GRCh37
NC_000011.8:g.2144737T>G	NCBI36
NG_008128.1:g.9875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.797A>C MANE Select	ENSP00000325951.4:p.Glu266Ala
ENST00000324155.8:c.*486A>C	ENSP00000325831.3:n.*486A>C
ENST00000333684.9:c.696-382A>C	ENSP00000328814.6:n.696-382A>C
ENST00000352909.7:c.797A>C	ENSP00000325951.3:p.Glu266Ala
ENST00000381168.7:c.*517A>C	ENSP00000370560.3:n.*517A>C
ENST00000381175.5:c.878A>C	ENSP00000370567.1:p.Glu293Ala
ENST00000381178.5:c.890A>C	ENSP00000370571.1:p.Glu297Ala
ENST00000412076.1:c.136-382A>C
ENST00000416223.5:c.136-163A>C
ENST00000469226.1:n.926A>C
ENST00000479437.5:n.346A>C
NM_000360.3:c.797A>C	NP_000351.2:p.Glu266Ala
NM_199292.2:c.890A>C	NP_954986.2:p.Glu297Ala
NM_199293.2:c.878A>C	NP_954987.2:p.Glu293Ala
XM_011520335.1:c.809A>C	XP_011518637.1:p.Glu270Ala
XM_011520335.2:c.809A>C	XP_011518637.1:p.Glu270Ala
NM_000360.4:c.797A>C MANE Select	NP_000351.2:p.Glu266Ala
NM_199292.3:c.890A>C	NP_954986.2:p.Glu297Ala
NM_199293.3:c.878A>C	NP_954987.2:p.Glu293Ala