Canonical Allele Identifier: CA13406200
Gene: TH HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2070762

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165105A>G , CM000673.2:g.2165105A>G GRCh38
NC_000011.9:g.2186335A>G , CM000673.1:g.2186335A>G GRCh37
NC_000011.8:g.2142911A>G NCBI36
NG_007114.1:g.1090T>C
NG_008128.1:g.11701T>C
NG_050578.1:g.1105T>C

Transcript Alleles

HGVS Amino-acid change
NM_000360.3:c.1334+127T>C VV NP_000351.2:p.=
NM_199292.2:c.1427+127T>C VV NP_954986.2:p.=
NM_199293.2:c.1415+127T>C VV NP_954987.2:p.=
XM_011520335.1:c.1346+127T>C XP_011518637.1:p.=
XM_011520335.2:c.1346+127T>C XP_011518637.1:p.=
ENST00000333684.9:c.1052+127T>C ENSP00000328814.6:p.=
ENST00000352909.7:c.1334+127T>C ENSP00000325951.3:p.=
ENST00000381175.5:c.1415+127T>C ENSP00000370567.1:p.=
ENST00000381178.5:c.1427+127T>C ENSP00000370571.1:p.=