Canonical Allele Identifier: CA472414300

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187997C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166767C>T , CM000673.2:g.2166767C>T	GRCh38
NC_000011.9:g.2187997C>T , CM000673.1:g.2187997C>T	GRCh37
NC_000011.8:g.2144573C>T	NCBI36
NG_008128.1:g.10039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.843G>A MANE Select	ENSP00000325951.4:p.Glu281=
ENST00000324155.8:c.*532G>A	ENSP00000325831.3:n.*532G>A
ENST00000333684.9:c.696-218G>A	ENSP00000328814.6:n.696-218G>A
ENST00000352909.7:c.843G>A	ENSP00000325951.3:p.Glu281=
ENST00000381168.7:c.*563G>A	ENSP00000370560.3:n.*563G>A
ENST00000381175.5:c.924G>A	ENSP00000370567.1:p.Glu308=
ENST00000381178.5:c.936G>A	ENSP00000370571.1:p.Glu312=
ENST00000412076.1:c.136-218G>A
ENST00000416223.5:c.137G>A
ENST00000461172.1:n.8G>A
ENST00000479437.5:n.392G>A
NM_000360.3:c.843G>A	NP_000351.2:p.Glu281=
NM_199292.2:c.936G>A	NP_954986.2:p.Glu312=
NM_199293.2:c.924G>A	NP_954987.2:p.Glu308=
XM_011520335.1:c.855G>A	XP_011518637.1:p.Glu285=
XM_011520335.2:c.855G>A	XP_011518637.1:p.Glu285=
NM_000360.4:c.843G>A MANE Select	NP_000351.2:p.Glu281=
NM_199292.3:c.936G>A	NP_954986.2:p.Glu312=
NM_199293.3:c.924G>A	NP_954987.2:p.Glu308=