Canonical Allele Identifier: CA379112819
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171727-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171727C>A , CM000673.2:g.2171727C>A GRCh38
NC_000011.9:g.2192957C>A , CM000673.1:g.2192957C>A GRCh37
NC_000011.8:g.2149533C>A NCBI36
NG_008128.1:g.5079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.60G>T MANE Select ENSP00000325951.4:p.Glu20Asp
ENST00000324155.8:c.60G>T ENSP00000325831.3:p.Glu20Asp
ENST00000333684.9:c.60G>T ENSP00000328814.6:p.Glu20Asp
ENST00000352909.7:c.60G>T ENSP00000325951.3:p.Glu20Asp
ENST00000381168.7:c.60G>T ENSP00000370560.3:p.Glu20Asp
ENST00000381175.5:c.60G>T ENSP00000370567.1:p.Glu20Asp
ENST00000381178.5:c.60G>T ENSP00000370571.1:p.Glu20Asp
NM_000360.3:c.60G>T NP_000351.2:p.Glu20Asp
NM_199292.2:c.60G>T NP_954986.2:p.Glu20Asp
NM_199293.2:c.60G>T NP_954987.2:p.Glu20Asp
XM_011520335.1:c.60G>T XP_011518637.1:p.Glu20Asp
XM_011520335.2:c.60G>T XP_011518637.1:p.Glu20Asp
NM_000360.4:c.60G>T MANE Select NP_000351.2:p.Glu20Asp
NM_199292.3:c.60G>T NP_954986.2:p.Glu20Asp
NM_199293.3:c.60G>T NP_954987.2:p.Glu20Asp