Canonical Allele Identifier: CA379126612

Gene: TH

Linked Data

• ClinVar Variation Id: 1724065
• ClinVar RCV Id: RCV002306620
• gnomAD v4: 11-2166917-G-A
• MyVariant Identifiers: chr11:g.2188147G>A (hg19) ; chr11:g.2166917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166917G>A , CM000673.2:g.2166917G>A	GRCh38
NC_000011.9:g.2188147G>A , CM000673.1:g.2188147G>A	GRCh37
NC_000011.8:g.2144723G>A	NCBI36
NG_008128.1:g.9889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.811C>T MANE Select	ENSP00000325951.4:p.Gln271Ter
ENST00000324155.8:c.*500C>T	ENSP00000325831.3:n.*500C>T
ENST00000333684.9:c.696-368C>T	ENSP00000328814.6:n.696-368C>T
ENST00000352909.7:c.811C>T	ENSP00000325951.3:p.Gln271Ter
ENST00000381168.7:c.*531C>T	ENSP00000370560.3:n.*531C>T
ENST00000381175.5:c.892C>T	ENSP00000370567.1:p.Gln298Ter
ENST00000381178.5:c.904C>T	ENSP00000370571.1:p.Gln302Ter
ENST00000412076.1:c.136-368C>T
ENST00000416223.5:c.136-149C>T
ENST00000469226.1:n.940C>T
ENST00000479437.5:n.360C>T
NM_000360.3:c.811C>T	NP_000351.2:p.Gln271Ter
NM_199292.2:c.904C>T	NP_954986.2:p.Gln302Ter
NM_199293.2:c.892C>T	NP_954987.2:p.Gln298Ter
XM_011520335.1:c.823C>T	XP_011518637.1:p.Gln275Ter
XM_011520335.2:c.823C>T	XP_011518637.1:p.Gln275Ter
NM_000360.4:c.811C>T MANE Select	NP_000351.2:p.Gln271Ter
NM_199292.3:c.904C>T	NP_954986.2:p.Gln302Ter
NM_199293.3:c.892C>T	NP_954987.2:p.Gln298Ter