Canonical Allele Identifier: CA379126421

Gene: TH

Linked Data

• dbSNP Id: rs1846103707
• gnomAD v4: 11-2166765-C-T
• MyVariant Identifiers: chr11:g.2187995C>T (hg19) ; chr11:g.2166765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166765C>T , CM000673.2:g.2166765C>T	GRCh38
NC_000011.9:g.2187995C>T , CM000673.1:g.2187995C>T	GRCh37
NC_000011.8:g.2144571C>T	NCBI36
NG_008128.1:g.10041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.845G>A MANE Select	ENSP00000325951.4:p.Arg282His
ENST00000324155.8:c.*534G>A	ENSP00000325831.3:n.*534G>A
ENST00000333684.9:c.696-216G>A	ENSP00000328814.6:n.696-216G>A
ENST00000352909.7:c.845G>A	ENSP00000325951.3:p.Arg282His
ENST00000381168.7:c.*565G>A	ENSP00000370560.3:n.*565G>A
ENST00000381175.5:c.926G>A	ENSP00000370567.1:p.Arg309His
ENST00000381178.5:c.938G>A	ENSP00000370571.1:p.Arg313His
ENST00000412076.1:c.136-216G>A
ENST00000416223.5:c.139G>A
ENST00000461172.1:n.10G>A
ENST00000479437.5:n.394G>A
NM_000360.3:c.845G>A	NP_000351.2:p.Arg282His
NM_199292.2:c.938G>A	NP_954986.2:p.Arg313His
NM_199293.2:c.926G>A	NP_954987.2:p.Arg309His
XM_011520335.1:c.857G>A	XP_011518637.1:p.Arg286His
XM_011520335.2:c.857G>A	XP_011518637.1:p.Arg286His
NM_000360.4:c.845G>A MANE Select	NP_000351.2:p.Arg282His
NM_199292.3:c.938G>A	NP_954986.2:p.Arg313His
NM_199293.3:c.926G>A	NP_954987.2:p.Arg309His