Canonical Allele Identifier: CA379126917

Gene: TH

Linked Data

• gnomAD v4: 11-2166978-C-A
• MyVariant Identifiers: chr11:g.2188208C>A (hg19) ; chr11:g.2166978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166978C>A , CM000673.2:g.2166978C>A	GRCh38
NC_000011.9:g.2188208C>A , CM000673.1:g.2188208C>A	GRCh37
NC_000011.8:g.2144784C>A	NCBI36
NG_008128.1:g.9828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.750G>T MANE Select	ENSP00000325951.4:p.Glu250Asp
ENST00000324155.8:c.*439G>T	ENSP00000325831.3:n.*439G>T
ENST00000333684.9:c.696-429G>T	ENSP00000328814.6:n.696-429G>T
ENST00000352909.7:c.750G>T	ENSP00000325951.3:p.Glu250Asp
ENST00000381168.7:c.*470G>T	ENSP00000370560.3:n.*470G>T
ENST00000381175.5:c.831G>T	ENSP00000370567.1:p.Glu277Asp
ENST00000381178.5:c.843G>T	ENSP00000370571.1:p.Glu281Asp
ENST00000412076.1:c.136-429G>T
ENST00000416223.5:c.136-210G>T
ENST00000469226.1:n.879G>T
ENST00000479437.5:n.299G>T
NM_000360.3:c.750G>T	NP_000351.2:p.Glu250Asp
NM_199292.2:c.843G>T	NP_954986.2:p.Glu281Asp
NM_199293.2:c.831G>T	NP_954987.2:p.Glu277Asp
XM_011520335.1:c.762G>T	XP_011518637.1:p.Glu254Asp
XM_011520335.2:c.762G>T	XP_011518637.1:p.Glu254Asp
NM_000360.4:c.750G>T MANE Select	NP_000351.2:p.Glu250Asp
NM_199292.3:c.843G>T	NP_954986.2:p.Glu281Asp
NM_199293.3:c.831G>T	NP_954987.2:p.Glu277Asp