Canonical Allele Identifier: CA379112542
Gene: TH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169864C>A , CM000673.2:g.2169864C>A GRCh38
NC_000011.9:g.2191094C>A , CM000673.1:g.2191094C>A GRCh37
NC_000011.8:g.2147670C>A NCBI36
NG_008128.1:g.6942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.98G>T MANE Select ENSP00000325951.4:p.Arg33Leu
ENST00000324155.8:c.91-169G>T ENSP00000325831.3:n.91-169G>T
ENST00000333684.9:c.98G>T ENSP00000328814.6:p.Arg33Leu
ENST00000352909.7:c.98G>T ENSP00000325951.3:p.Arg33Leu
ENST00000381168.7:c.103-169G>T ENSP00000370560.3:n.103-169G>T
ENST00000381175.5:c.179G>T ENSP00000370567.1:p.Arg60Leu
ENST00000381178.5:c.191G>T ENSP00000370571.1:p.Arg64Leu
NM_000360.3:c.98G>T NP_000351.2:p.Arg33Leu
NM_199292.2:c.191G>T NP_954986.2:p.Arg64Leu
NM_199293.2:c.179G>T NP_954987.2:p.Arg60Leu
XM_011520335.1:c.110G>T XP_011518637.1:p.Arg37Leu
XM_011520335.2:c.110G>T XP_011518637.1:p.Arg37Leu
NM_000360.4:c.98G>T MANE Select NP_000351.2:p.Arg33Leu
NM_199292.3:c.191G>T NP_954986.2:p.Arg64Leu
NM_199293.3:c.179G>T NP_954987.2:p.Arg60Leu