Canonical Allele Identifier: CA379126751

Gene: TH

Linked Data

• gnomAD v4: 11-2166944-T-G
• MyVariant Identifiers: chr11:g.2188174T>G (hg19) ; chr11:g.2166944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166944T>G , CM000673.2:g.2166944T>G	GRCh38
NC_000011.9:g.2188174T>G , CM000673.1:g.2188174T>G	GRCh37
NC_000011.8:g.2144750T>G	NCBI36
NG_008128.1:g.9862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.784A>C MANE Select	ENSP00000325951.4:p.Ser262Arg
ENST00000324155.8:c.*473A>C	ENSP00000325831.3:n.*473A>C
ENST00000333684.9:c.696-395A>C	ENSP00000328814.6:n.696-395A>C
ENST00000352909.7:c.784A>C	ENSP00000325951.3:p.Ser262Arg
ENST00000381168.7:c.*504A>C	ENSP00000370560.3:n.*504A>C
ENST00000381175.5:c.865A>C	ENSP00000370567.1:p.Ser289Arg
ENST00000381178.5:c.877A>C	ENSP00000370571.1:p.Ser293Arg
ENST00000412076.1:c.136-395A>C
ENST00000416223.5:c.136-176A>C
ENST00000469226.1:n.913A>C
ENST00000479437.5:n.333A>C
NM_000360.3:c.784A>C	NP_000351.2:p.Ser262Arg
NM_199292.2:c.877A>C	NP_954986.2:p.Ser293Arg
NM_199293.2:c.865A>C	NP_954987.2:p.Ser289Arg
XM_011520335.1:c.796A>C	XP_011518637.1:p.Ser266Arg
XM_011520335.2:c.796A>C	XP_011518637.1:p.Ser266Arg
NM_000360.4:c.784A>C MANE Select	NP_000351.2:p.Ser262Arg
NM_199292.3:c.877A>C	NP_954986.2:p.Ser293Arg
NM_199293.3:c.865A>C	NP_954987.2:p.Ser289Arg