Canonical Allele Identifier: CA379126664

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188158T>C (hg19) ; chr11:g.2166928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166928T>C , CM000673.2:g.2166928T>C	GRCh38
NC_000011.9:g.2188158T>C , CM000673.1:g.2188158T>C	GRCh37
NC_000011.8:g.2144734T>C	NCBI36
NG_008128.1:g.9878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.800A>G MANE Select	ENSP00000325951.4:p.Asp267Gly
ENST00000324155.8:c.*489A>G	ENSP00000325831.3:n.*489A>G
ENST00000333684.9:c.696-379A>G	ENSP00000328814.6:n.696-379A>G
ENST00000352909.7:c.800A>G	ENSP00000325951.3:p.Asp267Gly
ENST00000381168.7:c.*520A>G	ENSP00000370560.3:n.*520A>G
ENST00000381175.5:c.881A>G	ENSP00000370567.1:p.Asp294Gly
ENST00000381178.5:c.893A>G	ENSP00000370571.1:p.Asp298Gly
ENST00000412076.1:c.136-379A>G
ENST00000416223.5:c.136-160A>G
ENST00000469226.1:n.929A>G
ENST00000479437.5:n.349A>G
NM_000360.3:c.800A>G	NP_000351.2:p.Asp267Gly
NM_199292.2:c.893A>G	NP_954986.2:p.Asp298Gly
NM_199293.2:c.881A>G	NP_954987.2:p.Asp294Gly
XM_011520335.1:c.812A>G	XP_011518637.1:p.Asp271Gly
XM_011520335.2:c.812A>G	XP_011518637.1:p.Asp271Gly
NM_000360.4:c.800A>G MANE Select	NP_000351.2:p.Asp267Gly
NM_199292.3:c.893A>G	NP_954986.2:p.Asp298Gly
NM_199293.3:c.881A>G	NP_954987.2:p.Asp294Gly