Canonical Allele Identifier: CA341192

Gene: TH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167905C>T , CM000673.2:g.2167905C>T	GRCh38
NC_000011.9:g.2189135C>T , CM000673.1:g.2189135C>T	GRCh37
NC_000011.8:g.2145711C>T	NCBI36
NG_008128.1:g.8901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.605G>A MANE Select	ENSP00000325951.4:p.Arg202His
ENST00000324155.8:c.*294G>A	ENSP00000325831.3:n.*294G>A
ENST00000333684.9:c.605G>A	ENSP00000328814.6:p.Arg202His
ENST00000352909.7:c.605G>A	ENSP00000325951.3:p.Arg202His
ENST00000381168.7:c.*294G>A	ENSP00000370560.3:n.*294G>A
ENST00000381175.5:c.686G>A	ENSP00000370567.1:p.Arg229His
ENST00000381178.5:c.698G>A	ENSP00000370571.1:p.Arg233His
ENST00000412076.1:c.45G>A
ENST00000416223.5:c.45G>A
ENST00000469226.1:n.354G>A
NM_000360.3:c.605G>A	NP_000351.2:p.Arg202His
NM_199292.2:c.698G>A	NP_954986.2:p.Arg233His
NM_199293.2:c.686G>A	NP_954987.2:p.Arg229His
XM_011520335.1:c.617G>A	XP_011518637.1:p.Arg206His
XM_011520335.2:c.617G>A	XP_011518637.1:p.Arg206His
NM_000360.4:c.605G>A MANE Select	NP_000351.2:p.Arg202His
NM_199292.3:c.698G>A	NP_954986.2:p.Arg233His
NM_199293.3:c.686G>A	NP_954987.2:p.Arg229His