Canonical Allele Identifier: CA379127168

Gene: TH

Linked Data

• ClinVar Variation Id: 2495488
• ClinVar RCV Id: RCV003213606
• dbSNP Id: rs1564918313
• gnomAD v4: 11-2167028-C-T
• MyVariant Identifiers: chr11:g.2188258C>T (hg19) ; chr11:g.2167028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167028C>T , CM000673.2:g.2167028C>T	GRCh38
NC_000011.9:g.2188258C>T , CM000673.1:g.2188258C>T	GRCh37
NC_000011.8:g.2144834C>T	NCBI36
NG_008128.1:g.9778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.700G>A MANE Select	ENSP00000325951.4:p.Glu234Lys
ENST00000324155.8:c.*389G>A	ENSP00000325831.3:n.*389G>A
ENST00000333684.9:c.695+407G>A	ENSP00000328814.6:n.695+407G>A
ENST00000352909.7:c.700G>A	ENSP00000325951.3:p.Glu234Lys
ENST00000381168.7:c.*420G>A	ENSP00000370560.3:n.*420G>A
ENST00000381175.5:c.781G>A	ENSP00000370567.1:p.Glu261Lys
ENST00000381178.5:c.793G>A	ENSP00000370571.1:p.Glu265Lys
ENST00000412076.1:c.135+407G>A
ENST00000416223.5:c.136-260G>A
ENST00000469226.1:n.829G>A
ENST00000479437.5:n.249G>A
NM_000360.3:c.700G>A	NP_000351.2:p.Glu234Lys
NM_199292.2:c.793G>A	NP_954986.2:p.Glu265Lys
NM_199293.2:c.781G>A	NP_954987.2:p.Glu261Lys
XM_011520335.1:c.712G>A	XP_011518637.1:p.Glu238Lys
XM_011520335.2:c.712G>A	XP_011518637.1:p.Glu238Lys
NM_000360.4:c.700G>A MANE Select	NP_000351.2:p.Glu234Lys
NM_199292.3:c.793G>A	NP_954986.2:p.Glu265Lys
NM_199293.3:c.781G>A	NP_954987.2:p.Glu261Lys