Canonical Allele Identifier: CA379112456

Gene: TH

Linked Data

• gnomAD v4: 11-2169823-T-C
• MyVariant Identifiers: chr11:g.2191053T>C (hg19) ; chr11:g.2169823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169823T>C , CM000673.2:g.2169823T>C	GRCh38
NC_000011.9:g.2191053T>C , CM000673.1:g.2191053T>C	GRCh37
NC_000011.8:g.2147629T>C	NCBI36
NG_008128.1:g.6983A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.139A>G MANE Select	ENSP00000325951.4:p.Lys47Glu
ENST00000324155.8:c.91-128A>G	ENSP00000325831.3:n.91-128A>G
ENST00000333684.9:c.139A>G	ENSP00000328814.6:p.Lys47Glu
ENST00000352909.7:c.139A>G	ENSP00000325951.3:p.Lys47Glu
ENST00000381168.7:c.103-128A>G	ENSP00000370560.3:n.103-128A>G
ENST00000381175.5:c.220A>G	ENSP00000370567.1:p.Lys74Glu
ENST00000381178.5:c.232A>G	ENSP00000370571.1:p.Lys78Glu
NM_000360.3:c.139A>G	NP_000351.2:p.Lys47Glu
NM_199292.2:c.232A>G	NP_954986.2:p.Lys78Glu
NM_199293.2:c.220A>G	NP_954987.2:p.Lys74Glu
XM_011520335.1:c.151A>G	XP_011518637.1:p.Lys51Glu
XM_011520335.2:c.151A>G	XP_011518637.1:p.Lys51Glu
NM_000360.4:c.139A>G MANE Select	NP_000351.2:p.Lys47Glu
NM_199292.3:c.232A>G	NP_954986.2:p.Lys78Glu
NM_199293.3:c.220A>G	NP_954987.2:p.Lys74Glu