Canonical Allele Identifier: CA379127157

Gene: TH

Linked Data

• gnomAD v4: 11-2167027-T-C
• MyVariant Identifiers: chr11:g.2188257T>C (hg19) ; chr11:g.2167027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167027T>C , CM000673.2:g.2167027T>C	GRCh38
NC_000011.9:g.2188257T>C , CM000673.1:g.2188257T>C	GRCh37
NC_000011.8:g.2144833T>C	NCBI36
NG_008128.1:g.9779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.701A>G MANE Select	ENSP00000325951.4:p.Glu234Gly
ENST00000324155.8:c.*390A>G	ENSP00000325831.3:n.*390A>G
ENST00000333684.9:c.695+408A>G	ENSP00000328814.6:n.695+408A>G
ENST00000352909.7:c.701A>G	ENSP00000325951.3:p.Glu234Gly
ENST00000381168.7:c.*421A>G	ENSP00000370560.3:n.*421A>G
ENST00000381175.5:c.782A>G	ENSP00000370567.1:p.Glu261Gly
ENST00000381178.5:c.794A>G	ENSP00000370571.1:p.Glu265Gly
ENST00000412076.1:c.135+408A>G
ENST00000416223.5:c.136-259A>G
ENST00000469226.1:n.830A>G
ENST00000479437.5:n.250A>G
NM_000360.3:c.701A>G	NP_000351.2:p.Glu234Gly
NM_199292.2:c.794A>G	NP_954986.2:p.Glu265Gly
NM_199293.2:c.782A>G	NP_954987.2:p.Glu261Gly
XM_011520335.1:c.713A>G	XP_011518637.1:p.Glu238Gly
XM_011520335.2:c.713A>G	XP_011518637.1:p.Glu238Gly
NM_000360.4:c.701A>G MANE Select	NP_000351.2:p.Glu234Gly
NM_199292.3:c.794A>G	NP_954986.2:p.Glu265Gly
NM_199293.3:c.782A>G	NP_954987.2:p.Glu261Gly