Canonical Allele Identifier: CA379126900

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188206T>A (hg19) ; chr11:g.2166976T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166976T>A , CM000673.2:g.2166976T>A	GRCh38
NC_000011.9:g.2188206T>A , CM000673.1:g.2188206T>A	GRCh37
NC_000011.8:g.2144782T>A	NCBI36
NG_008128.1:g.9830A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.752A>T MANE Select	ENSP00000325951.4:p.His251Leu
ENST00000324155.8:c.*441A>T	ENSP00000325831.3:n.*441A>T
ENST00000333684.9:c.696-427A>T	ENSP00000328814.6:n.696-427A>T
ENST00000352909.7:c.752A>T	ENSP00000325951.3:p.His251Leu
ENST00000381168.7:c.*472A>T	ENSP00000370560.3:n.*472A>T
ENST00000381175.5:c.833A>T	ENSP00000370567.1:p.His278Leu
ENST00000381178.5:c.845A>T	ENSP00000370571.1:p.His282Leu
ENST00000412076.1:c.136-427A>T
ENST00000416223.5:c.136-208A>T
ENST00000469226.1:n.881A>T
ENST00000479437.5:n.301A>T
NM_000360.3:c.752A>T	NP_000351.2:p.His251Leu
NM_199292.2:c.845A>T	NP_954986.2:p.His282Leu
NM_199293.2:c.833A>T	NP_954987.2:p.His278Leu
XM_011520335.1:c.764A>T	XP_011518637.1:p.His255Leu
XM_011520335.2:c.764A>T	XP_011518637.1:p.His255Leu
NM_000360.4:c.752A>T MANE Select	NP_000351.2:p.His251Leu
NM_199292.3:c.845A>T	NP_954986.2:p.His282Leu
NM_199293.3:c.833A>T	NP_954987.2:p.His278Leu