Canonical Allele Identifier: CA379125792

Gene: TH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166003G>T , CM000673.2:g.2166003G>T	GRCh38
NC_000011.9:g.2187233G>T , CM000673.1:g.2187233G>T	GRCh37
NC_000011.8:g.2143809G>T	NCBI36
NG_007114.1:g.192C>A
NG_008128.1:g.10803C>A
NG_050578.1:g.207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1103C>A MANE Select	ENSP00000325951.4:p.Thr368Lys
ENST00000324155.8:c.*792C>A	ENSP00000325831.3:n.*792C>A
ENST00000333684.9:c.821C>A	ENSP00000328814.6:p.Thr274Lys
ENST00000352909.7:c.1103C>A	ENSP00000325951.3:p.Thr368Lys
ENST00000381175.5:c.1184C>A	ENSP00000370567.1:p.Thr395Lys
ENST00000381178.5:c.1196C>A	ENSP00000370571.1:p.Thr399Lys
ENST00000412076.1:c.261C>A
ENST00000416223.5:c.397C>A
ENST00000461172.1:n.689C>A
ENST00000479437.5:n.652C>A
NM_000360.3:c.1103C>A	NP_000351.2:p.Thr368Lys
NM_199292.2:c.1196C>A	NP_954986.2:p.Thr399Lys
NM_199293.2:c.1184C>A	NP_954987.2:p.Thr395Lys
XM_011520335.1:c.1115C>A	XP_011518637.1:p.Thr372Lys
XM_011520335.2:c.1115C>A	XP_011518637.1:p.Thr372Lys
NM_000360.4:c.1103C>A MANE Select	NP_000351.2:p.Thr368Lys
NM_199292.3:c.1196C>A	NP_954986.2:p.Thr399Lys
NM_199293.3:c.1184C>A	NP_954987.2:p.Thr395Lys