Canonical Allele Identifier: CA472034683

Gene: TH

Linked Data

• gnomAD v4: 11-2166501-G-T
• MyVariant Identifiers: chr11:g.2187731G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166501G>T , CM000673.2:g.2166501G>T	GRCh38
NC_000011.9:g.2187731G>T , CM000673.1:g.2187731G>T	GRCh37
NC_000011.8:g.2144307G>T	NCBI36
NG_008128.1:g.10305C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1026C>A MANE Select	ENSP00000325951.4:p.Arg342=
ENST00000324155.8:c.*715C>A	ENSP00000325831.3:n.*715C>A
ENST00000333684.9:c.744C>A	ENSP00000328814.6:p.Arg248=
ENST00000352909.7:c.1026C>A	ENSP00000325951.3:p.Arg342=
ENST00000381168.7:c.*746C>A	ENSP00000370560.3:n.*746C>A
ENST00000381175.5:c.1107C>A	ENSP00000370567.1:p.Arg369=
ENST00000381178.5:c.1119C>A	ENSP00000370571.1:p.Arg373=
ENST00000412076.1:c.184C>A
ENST00000416223.5:c.320C>A
ENST00000461172.1:n.191C>A
ENST00000479437.5:n.575C>A
NM_000360.3:c.1026C>A	NP_000351.2:p.Arg342=
NM_199292.2:c.1119C>A	NP_954986.2:p.Arg373=
NM_199293.2:c.1107C>A	NP_954987.2:p.Arg369=
XM_011520335.1:c.1038C>A	XP_011518637.1:p.Arg346=
XM_011520335.2:c.1038C>A	XP_011518637.1:p.Arg346=
NM_000360.4:c.1026C>A MANE Select	NP_000351.2:p.Arg342=
NM_199292.3:c.1119C>A	NP_954986.2:p.Arg373=
NM_199293.3:c.1107C>A	NP_954987.2:p.Arg369=