Canonical Allele Identifier: CA472019153
Gene: TH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2192984G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171754G>C , CM000673.2:g.2171754G>C GRCh38
NC_000011.9:g.2192984G>C , CM000673.1:g.2192984G>C GRCh37
NC_000011.8:g.2149560G>C NCBI36
NG_008128.1:g.5052C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.33C>G MANE Select ENSP00000325951.4:p.Ala11=
ENST00000324155.8:c.33C>G ENSP00000325831.3:p.Ala11=
ENST00000333684.9:c.33C>G ENSP00000328814.6:p.Ala11=
ENST00000352909.7:c.33C>G ENSP00000325951.3:p.Ala11=
ENST00000381168.7:c.33C>G ENSP00000370560.3:p.Ala11=
ENST00000381175.5:c.33C>G ENSP00000370567.1:p.Ala11=
ENST00000381178.5:c.33C>G ENSP00000370571.1:p.Ala11=
NM_000360.3:c.33C>G NP_000351.2:p.Ala11=
NM_199292.2:c.33C>G NP_954986.2:p.Ala11=
NM_199293.2:c.33C>G NP_954987.2:p.Ala11=
XM_011520335.1:c.33C>G XP_011518637.1:p.Ala11=
XM_011520335.2:c.33C>G XP_011518637.1:p.Ala11=
NM_000360.4:c.33C>G MANE Select NP_000351.2:p.Ala11=
NM_199292.3:c.33C>G NP_954986.2:p.Ala11=
NM_199293.3:c.33C>G NP_954987.2:p.Ala11=