Canonical Allele Identifier: CA2574757463

Gene: TH

Linked Data

• gnomAD v4: 11-2166414-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166414C>T , CM000673.2:g.2166414C>T	GRCh38
NC_000011.9:g.2187644C>T , CM000673.1:g.2187644C>T	GRCh37
NC_000011.8:g.2144220C>T	NCBI36
NG_008128.1:g.10392G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1047+66G>A MANE Select	ENSP00000325951.4:n.1047+66G>A
ENST00000324155.8:c.*736+66G>A	ENSP00000325831.3:n.*736+66G>A
ENST00000333684.9:c.765+66G>A	ENSP00000328814.6:n.765+66G>A
ENST00000352909.7:c.1047+66G>A	ENSP00000325951.3:n.1047+66G>A
ENST00000381168.7:c.*767+66G>A	ENSP00000370560.3:n.*767+66G>A
ENST00000381175.5:c.1128+66G>A	ENSP00000370567.1:n.1128+66G>A
ENST00000381178.5:c.1140+66G>A	ENSP00000370571.1:n.1140+66G>A
ENST00000412076.1:c.205+66G>A
ENST00000416223.5:c.341+66G>A
ENST00000461172.1:n.278G>A
ENST00000479437.5:n.596+66G>A
NM_000360.3:c.1047+66G>A	NP_000351.2:n.1047+66G>A
NM_199292.2:c.1140+66G>A	NP_954986.2:n.1140+66G>A
NM_199293.2:c.1128+66G>A	NP_954987.2:n.1128+66G>A
XM_011520335.1:c.1059+66G>A	XP_011518637.1:n.1059+66G>A
XM_011520335.2:c.1059+66G>A	XP_011518637.1:n.1059+66G>A
NM_000360.4:c.1047+66G>A MANE Select	NP_000351.2:n.1047+66G>A
NM_199292.3:c.1140+66G>A	NP_954986.2:n.1140+66G>A
NM_199293.3:c.1128+66G>A	NP_954987.2:n.1128+66G>A