Canonical Allele Identifier: CA2611960829

Gene: TH

Linked Data

• gnomAD v4: 11-2166351-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166351C>A , CM000673.2:g.2166351C>A	GRCh38
NC_000011.9:g.2187581C>A , CM000673.1:g.2187581C>A	GRCh37
NC_000011.8:g.2144157C>A	NCBI36
NG_008128.1:g.10455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1047+129G>T MANE Select	ENSP00000325951.4:n.1047+129G>T
ENST00000324155.8:c.*736+129G>T	ENSP00000325831.3:n.*736+129G>T
ENST00000333684.9:c.765+129G>T	ENSP00000328814.6:n.765+129G>T
ENST00000352909.7:c.1047+129G>T	ENSP00000325951.3:n.1047+129G>T
ENST00000381168.7:c.*767+129G>T	ENSP00000370560.3:n.*767+129G>T
ENST00000381175.5:c.1128+129G>T	ENSP00000370567.1:n.1128+129G>T
ENST00000381178.5:c.1140+129G>T	ENSP00000370571.1:n.1140+129G>T
ENST00000412076.1:c.205+129G>T
ENST00000416223.5:c.341+129G>T
ENST00000461172.1:n.341G>T
ENST00000479437.5:n.596+129G>T
NM_000360.3:c.1047+129G>T	NP_000351.2:n.1047+129G>T
NM_199292.2:c.1140+129G>T	NP_954986.2:n.1140+129G>T
NM_199293.2:c.1128+129G>T	NP_954987.2:n.1128+129G>T
XM_011520335.1:c.1059+129G>T	XP_011518637.1:n.1059+129G>T
XM_011520335.2:c.1059+129G>T	XP_011518637.1:n.1059+129G>T
NM_000360.4:c.1047+129G>T MANE Select	NP_000351.2:n.1047+129G>T
NM_199292.3:c.1140+129G>T	NP_954986.2:n.1140+129G>T
NM_199293.3:c.1128+129G>T	NP_954987.2:n.1128+129G>T