Canonical Allele Identifier: CA472414329

Gene: TH

Linked Data

• ClinVar Variation Id: 2114638
• ClinVar RCV Id: RCV003032261
• MyVariant Identifiers: chr11:g.2188163C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166933C>G , CM000673.2:g.2166933C>G	GRCh38
NC_000011.9:g.2188163C>G , CM000673.1:g.2188163C>G	GRCh37
NC_000011.8:g.2144739C>G	NCBI36
NG_008128.1:g.9873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.795G>C MANE Select	ENSP00000325951.4:p.Arg265=
ENST00000324155.8:c.*484G>C	ENSP00000325831.3:n.*484G>C
ENST00000333684.9:c.696-384G>C	ENSP00000328814.6:n.696-384G>C
ENST00000352909.7:c.795G>C	ENSP00000325951.3:p.Arg265=
ENST00000381168.7:c.*515G>C	ENSP00000370560.3:n.*515G>C
ENST00000381175.5:c.876G>C	ENSP00000370567.1:p.Arg292=
ENST00000381178.5:c.888G>C	ENSP00000370571.1:p.Arg296=
ENST00000412076.1:c.136-384G>C
ENST00000416223.5:c.136-165G>C
ENST00000469226.1:n.924G>C
ENST00000479437.5:n.344G>C
NM_000360.3:c.795G>C	NP_000351.2:p.Arg265=
NM_199292.2:c.888G>C	NP_954986.2:p.Arg296=
NM_199293.2:c.876G>C	NP_954987.2:p.Arg292=
XM_011520335.1:c.807G>C	XP_011518637.1:p.Arg269=
XM_011520335.2:c.807G>C	XP_011518637.1:p.Arg269=
NM_000360.4:c.795G>C MANE Select	NP_000351.2:p.Arg265=
NM_199292.3:c.888G>C	NP_954986.2:p.Arg296=
NM_199293.3:c.876G>C	NP_954987.2:p.Arg292=