Canonical Allele Identifier: CA472018844
Gene: TH HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2190997C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169767C>A , CM000673.2:g.2169767C>A GRCh38
NC_000011.9:g.2190997C>A , CM000673.1:g.2190997C>A GRCh37
NC_000011.8:g.2147573C>A NCBI36
NG_008128.1:g.7039G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.195G>T MANE Select ENSP00000325951.4:p.Gly65=
ENST00000324155.8:c.91-72G>T ENSP00000325831.3:n.91-72G>T
ENST00000333684.9:c.195G>T ENSP00000328814.6:p.Gly65=
ENST00000352909.7:c.195G>T ENSP00000325951.3:p.Gly65=
ENST00000381168.7:c.103-72G>T ENSP00000370560.3:n.103-72G>T
ENST00000381175.5:c.276G>T ENSP00000370567.1:p.Gly92=
ENST00000381178.5:c.288G>T ENSP00000370571.1:p.Gly96=
NM_000360.3:c.195G>T NP_000351.2:p.Gly65=
NM_199292.2:c.288G>T NP_954986.2:p.Gly96=
NM_199293.2:c.276G>T NP_954987.2:p.Gly92=
XM_011520335.1:c.207G>T XP_011518637.1:p.Gly69=
XM_011520335.2:c.207G>T XP_011518637.1:p.Gly69=
NM_000360.4:c.195G>T MANE Select NP_000351.2:p.Gly65=
NM_199292.3:c.288G>T NP_954986.2:p.Gly96=
NM_199293.3:c.276G>T NP_954987.2:p.Gly92=