Canonical Allele Identifier: CA472034963

Gene: TH

Linked Data

• ClinVar Variation Id: 1591590
• ClinVar RCV Id: RCV002096277
• dbSNP Id: rs1324380637
• MyVariant Identifiers: chr11:g.2188256C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167026C>T , CM000673.2:g.2167026C>T	GRCh38
NC_000011.9:g.2188256C>T , CM000673.1:g.2188256C>T	GRCh37
NC_000011.8:g.2144832C>T	NCBI36
NG_008128.1:g.9780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.702G>A MANE Select	ENSP00000325951.4:p.Glu234=
ENST00000324155.8:c.*391G>A	ENSP00000325831.3:n.*391G>A
ENST00000333684.9:c.695+409G>A	ENSP00000328814.6:n.695+409G>A
ENST00000352909.7:c.702G>A	ENSP00000325951.3:p.Glu234=
ENST00000381168.7:c.*422G>A	ENSP00000370560.3:n.*422G>A
ENST00000381175.5:c.783G>A	ENSP00000370567.1:p.Glu261=
ENST00000381178.5:c.795G>A	ENSP00000370571.1:p.Glu265=
ENST00000412076.1:c.135+409G>A
ENST00000416223.5:c.136-258G>A
ENST00000469226.1:n.831G>A
ENST00000479437.5:n.251G>A
NM_000360.3:c.702G>A	NP_000351.2:p.Glu234=
NM_199292.2:c.795G>A	NP_954986.2:p.Glu265=
NM_199293.2:c.783G>A	NP_954987.2:p.Glu261=
XM_011520335.1:c.714G>A	XP_011518637.1:p.Glu238=
XM_011520335.2:c.714G>A	XP_011518637.1:p.Glu238=
NM_000360.4:c.702G>A MANE Select	NP_000351.2:p.Glu234=
NM_199292.3:c.795G>A	NP_954986.2:p.Glu265=
NM_199293.3:c.783G>A	NP_954987.2:p.Glu261=