Canonical Allele Identifier: CA379127018

Gene: TH

Linked Data

• gnomAD v4: 11-2167000-T-C
• MyVariant Identifiers: chr11:g.2188230T>C (hg19) ; chr11:g.2167000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167000T>C , CM000673.2:g.2167000T>C	GRCh38
NC_000011.9:g.2188230T>C , CM000673.1:g.2188230T>C	GRCh37
NC_000011.8:g.2144806T>C	NCBI36
NG_008128.1:g.9806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.728A>G MANE Select	ENSP00000325951.4:p.Tyr243Cys
ENST00000324155.8:c.*417A>G	ENSP00000325831.3:n.*417A>G
ENST00000333684.9:c.695+435A>G	ENSP00000328814.6:n.695+435A>G
ENST00000352909.7:c.728A>G	ENSP00000325951.3:p.Tyr243Cys
ENST00000381168.7:c.*448A>G	ENSP00000370560.3:n.*448A>G
ENST00000381175.5:c.809A>G	ENSP00000370567.1:p.Tyr270Cys
ENST00000381178.5:c.821A>G	ENSP00000370571.1:p.Tyr274Cys
ENST00000412076.1:c.135+435A>G
ENST00000416223.5:c.136-232A>G
ENST00000469226.1:n.857A>G
ENST00000479437.5:n.277A>G
NM_000360.3:c.728A>G	NP_000351.2:p.Tyr243Cys
NM_199292.2:c.821A>G	NP_954986.2:p.Tyr274Cys
NM_199293.2:c.809A>G	NP_954987.2:p.Tyr270Cys
XM_011520335.1:c.740A>G	XP_011518637.1:p.Tyr247Cys
XM_011520335.2:c.740A>G	XP_011518637.1:p.Tyr247Cys
NM_000360.4:c.728A>G MANE Select	NP_000351.2:p.Tyr243Cys
NM_199292.3:c.821A>G	NP_954986.2:p.Tyr274Cys
NM_199293.3:c.809A>G	NP_954987.2:p.Tyr270Cys