Canonical Allele Identifier: CA5818481

Gene: TH

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166912C>T , CM000673.2:g.2166912C>T	GRCh38
NC_000011.9:g.2188142C>T , CM000673.1:g.2188142C>T	GRCh37
NC_000011.8:g.2144718C>T	NCBI36
NG_008128.1:g.9894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.816G>A MANE Select	ENSP00000325951.4:p.Leu272=
ENST00000324155.8:c.*505G>A	ENSP00000325831.3:n.*505G>A
ENST00000333684.9:c.696-363G>A	ENSP00000328814.6:n.696-363G>A
ENST00000352909.7:c.816G>A	ENSP00000325951.3:p.Leu272=
ENST00000381168.7:c.*536G>A	ENSP00000370560.3:n.*536G>A
ENST00000381175.5:c.897G>A	ENSP00000370567.1:p.Leu299=
ENST00000381178.5:c.909G>A	ENSP00000370571.1:p.Leu303=
ENST00000412076.1:c.136-363G>A
ENST00000416223.5:c.136-144G>A
ENST00000469226.1:n.945G>A
ENST00000479437.5:n.365G>A
NM_000360.3:c.816G>A	NP_000351.2:p.Leu272=
NM_199292.2:c.909G>A	NP_954986.2:p.Leu303=
NM_199293.2:c.897G>A	NP_954987.2:p.Leu299=
XM_011520335.1:c.828G>A	XP_011518637.1:p.Leu276=
XM_011520335.2:c.828G>A	XP_011518637.1:p.Leu276=
NM_000360.4:c.816G>A MANE Select	NP_000351.2:p.Leu272=
NM_199292.3:c.909G>A	NP_954986.2:p.Leu303=
NM_199293.3:c.897G>A	NP_954987.2:p.Leu299=