Canonical Allele Identifier: CA379127165

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188258C>G (hg19) ; chr11:g.2167028C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.700G>C MANE Select	ENSP00000325951.4:p.Glu234Gln
ENST00000324155.8:c.*389G>C	ENSP00000325831.3:n.*389G>C
ENST00000333684.9:c.695+407G>C	ENSP00000328814.6:n.695+407G>C
ENST00000352909.7:c.700G>C	ENSP00000325951.3:p.Glu234Gln
ENST00000381168.7:c.*420G>C	ENSP00000370560.3:n.*420G>C
ENST00000381175.5:c.781G>C	ENSP00000370567.1:p.Glu261Gln
ENST00000381178.5:c.793G>C	ENSP00000370571.1:p.Glu265Gln
ENST00000412076.1:c.135+407G>C
ENST00000416223.5:c.136-260G>C
ENST00000469226.1:n.829G>C
ENST00000479437.5:n.249G>C
NM_000360.3:c.700G>C	NP_000351.2:p.Glu234Gln
NM_199292.2:c.793G>C	NP_954986.2:p.Glu265Gln
NM_199293.2:c.781G>C	NP_954987.2:p.Glu261Gln
XM_011520335.1:c.712G>C	XP_011518637.1:p.Glu238Gln
XM_011520335.2:c.712G>C	XP_011518637.1:p.Glu238Gln
NM_000360.4:c.700G>C MANE Select	NP_000351.2:p.Glu234Gln
NM_199292.3:c.793G>C	NP_954986.2:p.Glu265Gln
NM_199293.3:c.781G>C	NP_954987.2:p.Glu261Gln