Canonical Allele Identifier: CA379125949

Gene: TH

Linked Data

• dbSNP Id: rs1846093892
• gnomAD v4: 11-2166493-G-T
• MyVariant Identifiers: chr11:g.2187723G>T (hg19) ; chr11:g.2166493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166493G>T , CM000673.2:g.2166493G>T	GRCh38
NC_000011.9:g.2187723G>T , CM000673.1:g.2187723G>T	GRCh37
NC_000011.8:g.2144299G>T	NCBI36
NG_008128.1:g.10313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1034C>A MANE Select	ENSP00000325951.4:p.Ala345Glu
ENST00000324155.8:c.*723C>A	ENSP00000325831.3:n.*723C>A
ENST00000333684.9:c.752C>A	ENSP00000328814.6:p.Ala251Glu
ENST00000352909.7:c.1034C>A	ENSP00000325951.3:p.Ala345Glu
ENST00000381168.7:c.*754C>A	ENSP00000370560.3:n.*754C>A
ENST00000381175.5:c.1115C>A	ENSP00000370567.1:p.Ala372Glu
ENST00000381178.5:c.1127C>A	ENSP00000370571.1:p.Ala376Glu
ENST00000412076.1:c.192C>A
ENST00000416223.5:c.328C>A
ENST00000461172.1:n.199C>A
ENST00000479437.5:n.583C>A
NM_000360.3:c.1034C>A	NP_000351.2:p.Ala345Glu
NM_199292.2:c.1127C>A	NP_954986.2:p.Ala376Glu
NM_199293.2:c.1115C>A	NP_954987.2:p.Ala372Glu
XM_011520335.1:c.1046C>A	XP_011518637.1:p.Ala349Glu
XM_011520335.2:c.1046C>A	XP_011518637.1:p.Ala349Glu
NM_000360.4:c.1034C>A MANE Select	NP_000351.2:p.Ala345Glu
NM_199292.3:c.1127C>A	NP_954986.2:p.Ala376Glu
NM_199293.3:c.1115C>A	NP_954987.2:p.Ala372Glu