Canonical Allele Identifier: CA472414116

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187940C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166710C>A , CM000673.2:g.2166710C>A	GRCh38
NC_000011.9:g.2187940C>A , CM000673.1:g.2187940C>A	GRCh37
NC_000011.8:g.2144516C>A	NCBI36
NG_008128.1:g.10096G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.900G>T MANE Select	ENSP00000325951.4:p.Leu300=
ENST00000324155.8:c.*589G>T	ENSP00000325831.3:n.*589G>T
ENST00000333684.9:c.696-161G>T	ENSP00000328814.6:n.696-161G>T
ENST00000352909.7:c.900G>T	ENSP00000325951.3:p.Leu300=
ENST00000381168.7:c.*620G>T	ENSP00000370560.3:n.*620G>T
ENST00000381175.5:c.981G>T	ENSP00000370567.1:p.Leu327=
ENST00000381178.5:c.993G>T	ENSP00000370571.1:p.Leu331=
ENST00000412076.1:c.136-161G>T
ENST00000416223.5:c.194G>T
ENST00000461172.1:n.65G>T
ENST00000479437.5:n.449G>T
NM_000360.3:c.900G>T	NP_000351.2:p.Leu300=
NM_199292.2:c.993G>T	NP_954986.2:p.Leu331=
NM_199293.2:c.981G>T	NP_954987.2:p.Leu327=
XM_011520335.1:c.912G>T	XP_011518637.1:p.Leu304=
XM_011520335.2:c.912G>T	XP_011518637.1:p.Leu304=
NM_000360.4:c.900G>T MANE Select	NP_000351.2:p.Leu300=
NM_199292.3:c.993G>T	NP_954986.2:p.Leu331=
NM_199293.3:c.981G>T	NP_954987.2:p.Leu327=