Canonical Allele Identifier: CA379128100

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2189133T>A (hg19) ; chr11:g.2167903T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167903T>A , CM000673.2:g.2167903T>A	GRCh38
NC_000011.9:g.2189133T>A , CM000673.1:g.2189133T>A	GRCh37
NC_000011.8:g.2145709T>A	NCBI36
NG_008128.1:g.8903A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.607A>T MANE Select	ENSP00000325951.4:p.Arg203Trp
ENST00000324155.8:c.*296A>T	ENSP00000325831.3:n.*296A>T
ENST00000333684.9:c.607A>T	ENSP00000328814.6:p.Arg203Trp
ENST00000352909.7:c.607A>T	ENSP00000325951.3:p.Arg203Trp
ENST00000381168.7:c.*296A>T	ENSP00000370560.3:n.*296A>T
ENST00000381175.5:c.688A>T	ENSP00000370567.1:p.Arg230Trp
ENST00000381178.5:c.700A>T	ENSP00000370571.1:p.Arg234Trp
ENST00000412076.1:c.47A>T
ENST00000416223.5:c.47A>T
ENST00000469226.1:n.356A>T
NM_000360.3:c.607A>T	NP_000351.2:p.Arg203Trp
NM_199292.2:c.700A>T	NP_954986.2:p.Arg234Trp
NM_199293.2:c.688A>T	NP_954987.2:p.Arg230Trp
XM_011520335.1:c.619A>T	XP_011518637.1:p.Arg207Trp
XM_011520335.2:c.619A>T	XP_011518637.1:p.Arg207Trp
NM_000360.4:c.607A>T MANE Select	NP_000351.2:p.Arg203Trp
NM_199292.3:c.700A>T	NP_954986.2:p.Arg234Trp
NM_199293.3:c.688A>T	NP_954987.2:p.Arg230Trp