Canonical Allele Identifier: CA1948003204
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165045C= , CM000673.2:g.2165045C= GRCh38
NC_000011.9:g.2186275C= , CM000673.1:g.2186275C= GRCh37
NC_000011.8:g.2142851C= NCBI36
NG_007114.1:g.1150G=
NG_008128.1:g.11761G=
NG_050578.1:g.1165G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1334+187G= MANE Select ENSP00000325951.4:n.1334+187G=
ENST00000333684.9:c.1052+187G= ENSP00000328814.6:n.1052+187G=
ENST00000352909.7:c.1334+187G= ENSP00000325951.3:n.1334+187G=
ENST00000381175.5:c.1415+187G= ENSP00000370567.1:n.1415+187G=
ENST00000381178.5:c.1427+187G= ENSP00000370571.1:n.1427+187G=
NM_000360.3:c.1334+187G= NP_000351.2:n.1334+187G=
NM_199292.2:c.1427+187G= NP_954986.2:n.1427+187G=
NM_199293.2:c.1415+187G= NP_954987.2:n.1415+187G=
XM_011520335.1:c.1346+187G= XP_011518637.1:n.1346+187G=
XM_011520335.2:c.1346+187G= XP_011518637.1:n.1346+187G=
NM_000360.4:c.1334+187G= MANE Select NP_000351.2:n.1334+187G=
NM_199292.3:c.1427+187G= NP_954986.2:n.1427+187G=
NM_199293.3:c.1415+187G= NP_954987.2:n.1415+187G=