Canonical Allele Identifier: CA10587112

Gene: TH

Linked Data

• ClinVar Variation Id: 263256
• ClinVar RCV Id: RCV000242988 ; RCV000728318
• dbSNP Id: rs886038763
• MyVariant Identifiers: chr11:g.2189866C>T (hg19) ; chr11:g.2168636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2168636C>T , CM000673.2:g.2168636C>T	GRCh38
NC_000011.9:g.2189866C>T , CM000673.1:g.2189866C>T	GRCh37
NC_000011.8:g.2146442C>T	NCBI36
NG_008128.1:g.8170G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.342G>A MANE Select	ENSP00000325951.4:p.Glu114=
ENST00000324155.8:c.*31G>A	ENSP00000325831.3:n.*31G>A
ENST00000333684.9:c.342G>A	ENSP00000328814.6:p.Glu114=
ENST00000352909.7:c.342G>A	ENSP00000325951.3:p.Glu114=
ENST00000381168.7:c.*31G>A	ENSP00000370560.3:n.*31G>A
ENST00000381175.5:c.423G>A	ENSP00000370567.1:p.Glu141=
ENST00000381178.5:c.435G>A	ENSP00000370571.1:p.Glu145=
ENST00000469226.1:n.91G>A
NM_000360.3:c.342G>A	NP_000351.2:p.Glu114=
NM_199292.2:c.435G>A	NP_954986.2:p.Glu145=
NM_199293.2:c.423G>A	NP_954987.2:p.Glu141=
XM_011520335.1:c.354G>A	XP_011518637.1:p.Glu118=
XM_011520335.2:c.354G>A	XP_011518637.1:p.Glu118=
NM_000360.4:c.342G>A MANE Select	NP_000351.2:p.Glu114=
NM_199292.3:c.435G>A	NP_954986.2:p.Glu145=
NM_199293.3:c.423G>A	NP_954987.2:p.Glu141=