Canonical Allele Identifier: CA472413976

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187865C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166635C>T , CM000673.2:g.2166635C>T	GRCh38
NC_000011.9:g.2187865C>T , CM000673.1:g.2187865C>T	GRCh37
NC_000011.8:g.2144441C>T	NCBI36
NG_008128.1:g.10171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.975G>A MANE Select	ENSP00000325951.4:p.Glu325=
ENST00000324155.8:c.*664G>A	ENSP00000325831.3:n.*664G>A
ENST00000333684.9:c.696-86G>A	ENSP00000328814.6:n.696-86G>A
ENST00000352909.7:c.975G>A	ENSP00000325951.3:p.Glu325=
ENST00000381168.7:c.*695G>A	ENSP00000370560.3:n.*695G>A
ENST00000381175.5:c.1056G>A	ENSP00000370567.1:p.Glu352=
ENST00000381178.5:c.1068G>A	ENSP00000370571.1:p.Glu356=
ENST00000412076.1:c.136-86G>A
ENST00000416223.5:c.269G>A
ENST00000461172.1:n.140G>A
ENST00000479437.5:n.524G>A
NM_000360.3:c.975G>A	NP_000351.2:p.Glu325=
NM_199292.2:c.1068G>A	NP_954986.2:p.Glu356=
NM_199293.2:c.1056G>A	NP_954987.2:p.Glu352=
XM_011520335.1:c.987G>A	XP_011518637.1:p.Glu329=
XM_011520335.2:c.987G>A	XP_011518637.1:p.Glu329=
NM_000360.4:c.975G>A MANE Select	NP_000351.2:p.Glu325=
NM_199292.3:c.1068G>A	NP_954986.2:p.Glu356=
NM_199293.3:c.1056G>A	NP_954987.2:p.Glu352=