Canonical Allele Identifier: CA379126188

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187909T>A (hg19) ; chr11:g.2166679T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166679T>A , CM000673.2:g.2166679T>A	GRCh38
NC_000011.9:g.2187909T>A , CM000673.1:g.2187909T>A	GRCh37
NC_000011.8:g.2144485T>A	NCBI36
NG_008128.1:g.10127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.931A>T MANE Select	ENSP00000325951.4:p.Thr311Ser
ENST00000324155.8:c.*620A>T	ENSP00000325831.3:n.*620A>T
ENST00000333684.9:c.696-130A>T	ENSP00000328814.6:n.696-130A>T
ENST00000352909.7:c.931A>T	ENSP00000325951.3:p.Thr311Ser
ENST00000381168.7:c.*651A>T	ENSP00000370560.3:n.*651A>T
ENST00000381175.5:c.1012A>T	ENSP00000370567.1:p.Thr338Ser
ENST00000381178.5:c.1024A>T	ENSP00000370571.1:p.Thr342Ser
ENST00000412076.1:c.136-130A>T
ENST00000416223.5:c.225A>T
ENST00000461172.1:n.96A>T
ENST00000479437.5:n.480A>T
NM_000360.3:c.931A>T	NP_000351.2:p.Thr311Ser
NM_199292.2:c.1024A>T	NP_954986.2:p.Thr342Ser
NM_199293.2:c.1012A>T	NP_954987.2:p.Thr338Ser
XM_011520335.1:c.943A>T	XP_011518637.1:p.Thr315Ser
XM_011520335.2:c.943A>T	XP_011518637.1:p.Thr315Ser
NM_000360.4:c.931A>T MANE Select	NP_000351.2:p.Thr311Ser
NM_199292.3:c.1024A>T	NP_954986.2:p.Thr342Ser
NM_199293.3:c.1012A>T	NP_954987.2:p.Thr338Ser