Canonical Allele Identifier: CA16619300

Gene: TH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167474A>G , CM000673.2:g.2167474A>G	GRCh38
NC_000011.9:g.2188704A>G , CM000673.1:g.2188704A>G	GRCh37
NC_000011.8:g.2145280A>G	NCBI36
NG_008128.1:g.9332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.656T>C MANE Select	ENSP00000325951.4:p.Ile219Thr
ENST00000324155.8:c.*345T>C	ENSP00000325831.3:n.*345T>C
ENST00000333684.9:c.656T>C	ENSP00000328814.6:p.Ile219Thr
ENST00000352909.7:c.656T>C	ENSP00000325951.3:p.Ile219Thr
ENST00000381168.7:c.*376T>C	ENSP00000370560.3:n.*376T>C
ENST00000381175.5:c.737T>C	ENSP00000370567.1:p.Ile246Thr
ENST00000381178.5:c.749T>C	ENSP00000370571.1:p.Ile250Thr
ENST00000412076.1:c.96T>C
ENST00000416223.5:c.96T>C
ENST00000469226.1:n.785T>C
NM_000360.3:c.656T>C	NP_000351.2:p.Ile219Thr
NM_199292.2:c.749T>C	NP_954986.2:p.Ile250Thr
NM_199293.2:c.737T>C	NP_954987.2:p.Ile246Thr
XM_011520335.1:c.668T>C	XP_011518637.1:p.Ile223Thr
XM_011520335.2:c.668T>C	XP_011518637.1:p.Ile223Thr
NM_000360.4:c.656T>C MANE Select	NP_000351.2:p.Ile219Thr
NM_199292.3:c.749T>C	NP_954986.2:p.Ile250Thr
NM_199293.3:c.737T>C	NP_954987.2:p.Ile246Thr