Canonical Allele Identifier: CA379125956

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187726A>C (hg19) ; chr11:g.2166496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166496A>C , CM000673.2:g.2166496A>C	GRCh38
NC_000011.9:g.2187726A>C , CM000673.1:g.2187726A>C	GRCh37
NC_000011.8:g.2144302A>C	NCBI36
NG_008128.1:g.10310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1031T>G MANE Select	ENSP00000325951.4:p.Phe344Cys
ENST00000324155.8:c.*720T>G	ENSP00000325831.3:n.*720T>G
ENST00000333684.9:c.749T>G	ENSP00000328814.6:p.Phe250Cys
ENST00000352909.7:c.1031T>G	ENSP00000325951.3:p.Phe344Cys
ENST00000381168.7:c.*751T>G	ENSP00000370560.3:n.*751T>G
ENST00000381175.5:c.1112T>G	ENSP00000370567.1:p.Phe371Cys
ENST00000381178.5:c.1124T>G	ENSP00000370571.1:p.Phe375Cys
ENST00000412076.1:c.189T>G
ENST00000416223.5:c.325T>G
ENST00000461172.1:n.196T>G
ENST00000479437.5:n.580T>G
NM_000360.3:c.1031T>G	NP_000351.2:p.Phe344Cys
NM_199292.2:c.1124T>G	NP_954986.2:p.Phe375Cys
NM_199293.2:c.1112T>G	NP_954987.2:p.Phe371Cys
XM_011520335.1:c.1043T>G	XP_011518637.1:p.Phe348Cys
XM_011520335.2:c.1043T>G	XP_011518637.1:p.Phe348Cys
NM_000360.4:c.1031T>G MANE Select	NP_000351.2:p.Phe344Cys
NM_199292.3:c.1124T>G	NP_954986.2:p.Phe375Cys
NM_199293.3:c.1112T>G	NP_954987.2:p.Phe371Cys