Canonical Allele Identifier: CA379126122

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187878A>C (hg19) ; chr11:g.2166648A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166648A>C , CM000673.2:g.2166648A>C	GRCh38
NC_000011.9:g.2187878A>C , CM000673.1:g.2187878A>C	GRCh37
NC_000011.8:g.2144454A>C	NCBI36
NG_008128.1:g.10158T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.962T>G MANE Select	ENSP00000325951.4:p.Met321Arg
ENST00000324155.8:c.*651T>G	ENSP00000325831.3:n.*651T>G
ENST00000333684.9:c.696-99T>G	ENSP00000328814.6:n.696-99T>G
ENST00000352909.7:c.962T>G	ENSP00000325951.3:p.Met321Arg
ENST00000381168.7:c.*682T>G	ENSP00000370560.3:n.*682T>G
ENST00000381175.5:c.1043T>G	ENSP00000370567.1:p.Met348Arg
ENST00000381178.5:c.1055T>G	ENSP00000370571.1:p.Met352Arg
ENST00000412076.1:c.136-99T>G
ENST00000416223.5:c.256T>G
ENST00000461172.1:n.127T>G
ENST00000479437.5:n.511T>G
NM_000360.3:c.962T>G	NP_000351.2:p.Met321Arg
NM_199292.2:c.1055T>G	NP_954986.2:p.Met352Arg
NM_199293.2:c.1043T>G	NP_954987.2:p.Met348Arg
XM_011520335.1:c.974T>G	XP_011518637.1:p.Met325Arg
XM_011520335.2:c.974T>G	XP_011518637.1:p.Met325Arg
NM_000360.4:c.962T>G MANE Select	NP_000351.2:p.Met321Arg
NM_199292.3:c.1055T>G	NP_954986.2:p.Met352Arg
NM_199293.3:c.1043T>G	NP_954987.2:p.Met348Arg