Canonical Allele Identifier: CA379125959

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187727A>C (hg19) ; chr11:g.2166497A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166497A>C , CM000673.2:g.2166497A>C	GRCh38
NC_000011.9:g.2187727A>C , CM000673.1:g.2187727A>C	GRCh37
NC_000011.8:g.2144303A>C	NCBI36
NG_008128.1:g.10309T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1030T>G MANE Select	ENSP00000325951.4:p.Phe344Val
ENST00000324155.8:c.*719T>G	ENSP00000325831.3:n.*719T>G
ENST00000333684.9:c.748T>G	ENSP00000328814.6:p.Phe250Val
ENST00000352909.7:c.1030T>G	ENSP00000325951.3:p.Phe344Val
ENST00000381168.7:c.*750T>G	ENSP00000370560.3:n.*750T>G
ENST00000381175.5:c.1111T>G	ENSP00000370567.1:p.Phe371Val
ENST00000381178.5:c.1123T>G	ENSP00000370571.1:p.Phe375Val
ENST00000412076.1:c.188T>G
ENST00000416223.5:c.324T>G
ENST00000461172.1:n.195T>G
ENST00000479437.5:n.579T>G
NM_000360.3:c.1030T>G	NP_000351.2:p.Phe344Val
NM_199292.2:c.1123T>G	NP_954986.2:p.Phe375Val
NM_199293.2:c.1111T>G	NP_954987.2:p.Phe371Val
XM_011520335.1:c.1042T>G	XP_011518637.1:p.Phe348Val
XM_011520335.2:c.1042T>G	XP_011518637.1:p.Phe348Val
NM_000360.4:c.1030T>G MANE Select	NP_000351.2:p.Phe344Val
NM_199292.3:c.1123T>G	NP_954986.2:p.Phe375Val
NM_199293.3:c.1111T>G	NP_954987.2:p.Phe371Val