Canonical Allele Identifier: CA379126602

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188145C>A (hg19) ; chr11:g.2166915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166915C>A , CM000673.2:g.2166915C>A	GRCh38
NC_000011.9:g.2188145C>A , CM000673.1:g.2188145C>A	GRCh37
NC_000011.8:g.2144721C>A	NCBI36
NG_008128.1:g.9891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.813G>T MANE Select	ENSP00000325951.4:p.Gln271His
ENST00000324155.8:c.*502G>T	ENSP00000325831.3:n.*502G>T
ENST00000333684.9:c.696-366G>T	ENSP00000328814.6:n.696-366G>T
ENST00000352909.7:c.813G>T	ENSP00000325951.3:p.Gln271His
ENST00000381168.7:c.*533G>T	ENSP00000370560.3:n.*533G>T
ENST00000381175.5:c.894G>T	ENSP00000370567.1:p.Gln298His
ENST00000381178.5:c.906G>T	ENSP00000370571.1:p.Gln302His
ENST00000412076.1:c.136-366G>T
ENST00000416223.5:c.136-147G>T
ENST00000469226.1:n.942G>T
ENST00000479437.5:n.362G>T
NM_000360.3:c.813G>T	NP_000351.2:p.Gln271His
NM_199292.2:c.906G>T	NP_954986.2:p.Gln302His
NM_199293.2:c.894G>T	NP_954987.2:p.Gln298His
XM_011520335.1:c.825G>T	XP_011518637.1:p.Gln275His
XM_011520335.2:c.825G>T	XP_011518637.1:p.Gln275His
NM_000360.4:c.813G>T MANE Select	NP_000351.2:p.Gln271His
NM_199292.3:c.906G>T	NP_954986.2:p.Gln302His
NM_199293.3:c.894G>T	NP_954987.2:p.Gln298His