Canonical Allele Identifier: CA2611971816

Gene: TH

Linked Data

• gnomAD v4: 11-2167998-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167998C>T , CM000673.2:g.2167998C>T	GRCh38
NC_000011.9:g.2189228C>T , CM000673.1:g.2189228C>T	GRCh37
NC_000011.8:g.2145804C>T	NCBI36
NG_008128.1:g.8808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.577-65G>A MANE Select	ENSP00000325951.4:n.577-65G>A
ENST00000324155.8:c.*266-65G>A	ENSP00000325831.3:n.*266-65G>A
ENST00000333684.9:c.577-65G>A	ENSP00000328814.6:n.577-65G>A
ENST00000352909.7:c.577-65G>A	ENSP00000325951.3:n.577-65G>A
ENST00000381168.7:c.*266-65G>A	ENSP00000370560.3:n.*266-65G>A
ENST00000381175.5:c.658-65G>A	ENSP00000370567.1:n.658-65G>A
ENST00000381178.5:c.670-65G>A	ENSP00000370571.1:n.670-65G>A
ENST00000412076.1:c.17-65G>A
ENST00000416223.5:c.17-65G>A
ENST00000469226.1:n.326-65G>A
NM_000360.3:c.577-65G>A	NP_000351.2:n.577-65G>A
NM_199292.2:c.670-65G>A	NP_954986.2:n.670-65G>A
NM_199293.2:c.658-65G>A	NP_954987.2:n.658-65G>A
XM_011520335.1:c.589-65G>A	XP_011518637.1:n.589-65G>A
XM_011520335.2:c.589-65G>A	XP_011518637.1:n.589-65G>A
NM_000360.4:c.577-65G>A MANE Select	NP_000351.2:n.577-65G>A
NM_199292.3:c.670-65G>A	NP_954986.2:n.670-65G>A
NM_199293.3:c.658-65G>A	NP_954987.2:n.658-65G>A