Canonical Allele Identifier: CA379126685

Gene: TH

Linked Data

• gnomAD v4: 11-2166932-C-G
• MyVariant Identifiers: chr11:g.2188162C>G (hg19) ; chr11:g.2166932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166932C>G , CM000673.2:g.2166932C>G	GRCh38
NC_000011.9:g.2188162C>G , CM000673.1:g.2188162C>G	GRCh37
NC_000011.8:g.2144738C>G	NCBI36
NG_008128.1:g.9874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.796G>C MANE Select	ENSP00000325951.4:p.Glu266Gln
ENST00000324155.8:c.*485G>C	ENSP00000325831.3:n.*485G>C
ENST00000333684.9:c.696-383G>C	ENSP00000328814.6:n.696-383G>C
ENST00000352909.7:c.796G>C	ENSP00000325951.3:p.Glu266Gln
ENST00000381168.7:c.*516G>C	ENSP00000370560.3:n.*516G>C
ENST00000381175.5:c.877G>C	ENSP00000370567.1:p.Glu293Gln
ENST00000381178.5:c.889G>C	ENSP00000370571.1:p.Glu297Gln
ENST00000412076.1:c.136-383G>C
ENST00000416223.5:c.136-164G>C
ENST00000469226.1:n.925G>C
ENST00000479437.5:n.345G>C
NM_000360.3:c.796G>C	NP_000351.2:p.Glu266Gln
NM_199292.2:c.889G>C	NP_954986.2:p.Glu297Gln
NM_199293.2:c.877G>C	NP_954987.2:p.Glu293Gln
XM_011520335.1:c.808G>C	XP_011518637.1:p.Glu270Gln
XM_011520335.2:c.808G>C	XP_011518637.1:p.Glu270Gln
NM_000360.4:c.796G>C MANE Select	NP_000351.2:p.Glu266Gln
NM_199292.3:c.889G>C	NP_954986.2:p.Glu297Gln
NM_199293.3:c.877G>C	NP_954987.2:p.Glu293Gln