Canonical Allele Identifier: CA379126391

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187987A>C (hg19) ; chr11:g.2166757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166757A>C , CM000673.2:g.2166757A>C	GRCh38
NC_000011.9:g.2187987A>C , CM000673.1:g.2187987A>C	GRCh37
NC_000011.8:g.2144563A>C	NCBI36
NG_008128.1:g.10049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.853T>G MANE Select	ENSP00000325951.4:p.Phe285Val
ENST00000324155.8:c.*542T>G	ENSP00000325831.3:n.*542T>G
ENST00000333684.9:c.696-208T>G	ENSP00000328814.6:n.696-208T>G
ENST00000352909.7:c.853T>G	ENSP00000325951.3:p.Phe285Val
ENST00000381168.7:c.*573T>G	ENSP00000370560.3:n.*573T>G
ENST00000381175.5:c.934T>G	ENSP00000370567.1:p.Phe312Val
ENST00000381178.5:c.946T>G	ENSP00000370571.1:p.Phe316Val
ENST00000412076.1:c.136-208T>G
ENST00000416223.5:c.147T>G
ENST00000461172.1:n.18T>G
ENST00000479437.5:n.402T>G
NM_000360.3:c.853T>G	NP_000351.2:p.Phe285Val
NM_199292.2:c.946T>G	NP_954986.2:p.Phe316Val
NM_199293.2:c.934T>G	NP_954987.2:p.Phe312Val
XM_011520335.1:c.865T>G	XP_011518637.1:p.Phe289Val
XM_011520335.2:c.865T>G	XP_011518637.1:p.Phe289Val
NM_000360.4:c.853T>G MANE Select	NP_000351.2:p.Phe285Val
NM_199292.3:c.946T>G	NP_954986.2:p.Phe316Val
NM_199293.3:c.934T>G	NP_954987.2:p.Phe312Val