Canonical Allele Identifier: CA379126481

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188117C>G (hg19) ; chr11:g.2166887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166887C>G , CM000673.2:g.2166887C>G	GRCh38
NC_000011.9:g.2188117C>G , CM000673.1:g.2188117C>G	GRCh37
NC_000011.8:g.2144693C>G	NCBI36
NG_008128.1:g.9919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.841G>C MANE Select	ENSP00000325951.4:p.Glu281Gln
ENST00000324155.8:c.*530G>C	ENSP00000325831.3:n.*530G>C
ENST00000333684.9:c.696-338G>C	ENSP00000328814.6:n.696-338G>C
ENST00000352909.7:c.841G>C	ENSP00000325951.3:p.Glu281Gln
ENST00000381168.7:c.*561G>C	ENSP00000370560.3:n.*561G>C
ENST00000381175.5:c.922G>C	ENSP00000370567.1:p.Glu308Gln
ENST00000381178.5:c.934G>C	ENSP00000370571.1:p.Glu312Gln
ENST00000412076.1:c.136-338G>C
ENST00000416223.5:c.136-119G>C
ENST00000479437.5:n.390G>C
NM_000360.3:c.841G>C	NP_000351.2:p.Glu281Gln
NM_199292.2:c.934G>C	NP_954986.2:p.Glu312Gln
NM_199293.2:c.922G>C	NP_954987.2:p.Glu308Gln
XM_011520335.1:c.853G>C	XP_011518637.1:p.Glu285Gln
XM_011520335.2:c.853G>C	XP_011518637.1:p.Glu285Gln
NM_000360.4:c.841G>C MANE Select	NP_000351.2:p.Glu281Gln
NM_199292.3:c.934G>C	NP_954986.2:p.Glu312Gln
NM_199293.3:c.922G>C	NP_954987.2:p.Glu308Gln