Canonical Allele Identifier: CA379126255

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187941A>C (hg19) ; chr11:g.2166711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166711A>C , CM000673.2:g.2166711A>C	GRCh38
NC_000011.9:g.2187941A>C , CM000673.1:g.2187941A>C	GRCh37
NC_000011.8:g.2144517A>C	NCBI36
NG_008128.1:g.10095T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.899T>G MANE Select	ENSP00000325951.4:p.Leu300Arg
ENST00000324155.8:c.*588T>G	ENSP00000325831.3:n.*588T>G
ENST00000333684.9:c.696-162T>G	ENSP00000328814.6:n.696-162T>G
ENST00000352909.7:c.899T>G	ENSP00000325951.3:p.Leu300Arg
ENST00000381168.7:c.*619T>G	ENSP00000370560.3:n.*619T>G
ENST00000381175.5:c.980T>G	ENSP00000370567.1:p.Leu327Arg
ENST00000381178.5:c.992T>G	ENSP00000370571.1:p.Leu331Arg
ENST00000412076.1:c.136-162T>G
ENST00000416223.5:c.193T>G
ENST00000461172.1:n.64T>G
ENST00000479437.5:n.448T>G
NM_000360.3:c.899T>G	NP_000351.2:p.Leu300Arg
NM_199292.2:c.992T>G	NP_954986.2:p.Leu331Arg
NM_199293.2:c.980T>G	NP_954987.2:p.Leu327Arg
XM_011520335.1:c.911T>G	XP_011518637.1:p.Leu304Arg
XM_011520335.2:c.911T>G	XP_011518637.1:p.Leu304Arg
NM_000360.4:c.899T>G MANE Select	NP_000351.2:p.Leu300Arg
NM_199292.3:c.992T>G	NP_954986.2:p.Leu331Arg
NM_199293.3:c.980T>G	NP_954987.2:p.Leu327Arg