Canonical Allele Identifier: CA379126468

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188115A>C (hg19) ; chr11:g.2166885A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166885A>C , CM000673.2:g.2166885A>C	GRCh38
NC_000011.9:g.2188115A>C , CM000673.1:g.2188115A>C	GRCh37
NC_000011.8:g.2144691A>C	NCBI36
NG_008128.1:g.9921T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.841+2T>G MANE Select	ENSP00000325951.4:n.841+2T>G
ENST00000324155.8:c.*530+2T>G	ENSP00000325831.3:n.*530+2T>G
ENST00000333684.9:c.696-336T>G	ENSP00000328814.6:n.696-336T>G
ENST00000352909.7:c.841+2T>G	ENSP00000325951.3:n.841+2T>G
ENST00000381168.7:c.*561+2T>G	ENSP00000370560.3:n.*561+2T>G
ENST00000381175.5:c.922+2T>G	ENSP00000370567.1:n.922+2T>G
ENST00000381178.5:c.934+2T>G	ENSP00000370571.1:n.934+2T>G
ENST00000412076.1:c.136-336T>G
ENST00000416223.5:c.136-117T>G
ENST00000479437.5:n.390+2T>G
NM_000360.3:c.841+2T>G	NP_000351.2:n.841+2T>G
NM_199292.2:c.934+2T>G	NP_954986.2:n.934+2T>G
NM_199293.2:c.922+2T>G	NP_954987.2:n.922+2T>G
XM_011520335.1:c.853+2T>G	XP_011518637.1:n.853+2T>G
XM_011520335.2:c.853+2T>G	XP_011518637.1:n.853+2T>G
NM_000360.4:c.841+2T>G MANE Select	NP_000351.2:n.841+2T>G
NM_199292.3:c.934+2T>G	NP_954986.2:n.934+2T>G
NM_199293.3:c.922+2T>G	NP_954987.2:n.922+2T>G