Canonical Allele Identifier: CA379128157

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2189144T>C (hg19) ; chr11:g.2167914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167914T>C , CM000673.2:g.2167914T>C	GRCh38
NC_000011.9:g.2189144T>C , CM000673.1:g.2189144T>C	GRCh37
NC_000011.8:g.2145720T>C	NCBI36
NG_008128.1:g.8892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.596A>G MANE Select	ENSP00000325951.4:p.Tyr199Cys
ENST00000324155.8:c.*285A>G	ENSP00000325831.3:n.*285A>G
ENST00000333684.9:c.596A>G	ENSP00000328814.6:p.Tyr199Cys
ENST00000352909.7:c.596A>G	ENSP00000325951.3:p.Tyr199Cys
ENST00000381168.7:c.*285A>G	ENSP00000370560.3:n.*285A>G
ENST00000381175.5:c.677A>G	ENSP00000370567.1:p.Tyr226Cys
ENST00000381178.5:c.689A>G	ENSP00000370571.1:p.Tyr230Cys
ENST00000412076.1:c.36A>G
ENST00000416223.5:c.36A>G
ENST00000469226.1:n.345A>G
NM_000360.3:c.596A>G	NP_000351.2:p.Tyr199Cys
NM_199292.2:c.689A>G	NP_954986.2:p.Tyr230Cys
NM_199293.2:c.677A>G	NP_954987.2:p.Tyr226Cys
XM_011520335.1:c.608A>G	XP_011518637.1:p.Tyr203Cys
XM_011520335.2:c.608A>G	XP_011518637.1:p.Tyr203Cys
NM_000360.4:c.596A>G MANE Select	NP_000351.2:p.Tyr199Cys
NM_199292.3:c.689A>G	NP_954986.2:p.Tyr230Cys
NM_199293.3:c.677A>G	NP_954987.2:p.Tyr226Cys