Canonical Allele Identifier: CA379126514

Gene: TH

Linked Data

• gnomAD v4: 11-2166895-A-T
• MyVariant Identifiers: chr11:g.2188125A>T (hg19) ; chr11:g.2166895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166895A>T , CM000673.2:g.2166895A>T	GRCh38
NC_000011.9:g.2188125A>T , CM000673.1:g.2188125A>T	GRCh37
NC_000011.8:g.2144701A>T	NCBI36
NG_008128.1:g.9911T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.833T>A MANE Select	ENSP00000325951.4:p.Phe278Tyr
ENST00000324155.8:c.*522T>A	ENSP00000325831.3:n.*522T>A
ENST00000333684.9:c.696-346T>A	ENSP00000328814.6:n.696-346T>A
ENST00000352909.7:c.833T>A	ENSP00000325951.3:p.Phe278Tyr
ENST00000381168.7:c.*553T>A	ENSP00000370560.3:n.*553T>A
ENST00000381175.5:c.914T>A	ENSP00000370567.1:p.Phe305Tyr
ENST00000381178.5:c.926T>A	ENSP00000370571.1:p.Phe309Tyr
ENST00000412076.1:c.136-346T>A
ENST00000416223.5:c.136-127T>A
ENST00000469226.1:n.962T>A
ENST00000479437.5:n.382T>A
NM_000360.3:c.833T>A	NP_000351.2:p.Phe278Tyr
NM_199292.2:c.926T>A	NP_954986.2:p.Phe309Tyr
NM_199293.2:c.914T>A	NP_954987.2:p.Phe305Tyr
XM_011520335.1:c.845T>A	XP_011518637.1:p.Phe282Tyr
XM_011520335.2:c.845T>A	XP_011518637.1:p.Phe282Tyr
NM_000360.4:c.833T>A MANE Select	NP_000351.2:p.Phe278Tyr
NM_199292.3:c.926T>A	NP_954986.2:p.Phe309Tyr
NM_199293.3:c.914T>A	NP_954987.2:p.Phe305Tyr