Canonical Allele Identifier: CA379126522

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188128C>G (hg19) ; chr11:g.2166898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166898C>G , CM000673.2:g.2166898C>G	GRCh38
NC_000011.9:g.2188128C>G , CM000673.1:g.2188128C>G	GRCh37
NC_000011.8:g.2144704C>G	NCBI36
NG_008128.1:g.9908G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.830G>C MANE Select	ENSP00000325951.4:p.Arg277Pro
ENST00000324155.8:c.*519G>C	ENSP00000325831.3:n.*519G>C
ENST00000333684.9:c.696-349G>C	ENSP00000328814.6:n.696-349G>C
ENST00000352909.7:c.830G>C	ENSP00000325951.3:p.Arg277Pro
ENST00000381168.7:c.*550G>C	ENSP00000370560.3:n.*550G>C
ENST00000381175.5:c.911G>C	ENSP00000370567.1:p.Arg304Pro
ENST00000381178.5:c.923G>C	ENSP00000370571.1:p.Arg308Pro
ENST00000412076.1:c.136-349G>C
ENST00000416223.5:c.136-130G>C
ENST00000469226.1:n.959G>C
ENST00000479437.5:n.379G>C
NM_000360.3:c.830G>C	NP_000351.2:p.Arg277Pro
NM_199292.2:c.923G>C	NP_954986.2:p.Arg308Pro
NM_199293.2:c.911G>C	NP_954987.2:p.Arg304Pro
XM_011520335.1:c.842G>C	XP_011518637.1:p.Arg281Pro
XM_011520335.2:c.842G>C	XP_011518637.1:p.Arg281Pro
NM_000360.4:c.830G>C MANE Select	NP_000351.2:p.Arg277Pro
NM_199292.3:c.923G>C	NP_954986.2:p.Arg308Pro
NM_199293.3:c.911G>C	NP_954987.2:p.Arg304Pro