Canonical Allele Identifier: CA1948002421
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2164229G= , CM000673.2:g.2164229G= GRCh38
NC_000011.9:g.2185459G= , CM000673.1:g.2185459G= GRCh37
NC_000011.8:g.2142035G= NCBI36
NG_007114.1:g.1966C=
NG_008128.1:g.12577C=
NG_050578.1:g.1981C=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.*4C= MANE Select ENSP00000325951.4:n.*4C=
ENST00000333684.9:c.*4C= ENSP00000328814.6:n.*4C=
ENST00000352909.7:c.*4C= ENSP00000325951.3:n.*4C=
ENST00000381175.5:c.*4C= ENSP00000370567.1:n.*4C=
ENST00000381178.5:c.*4C= ENSP00000370571.1:n.*4C=
NM_000360.3:c.*4C= NP_000351.2:n.*4C=
NM_199292.2:c.*4C= NP_954986.2:n.*4C=
NM_199293.2:c.*4C= NP_954987.2:n.*4C=
XM_011520335.1:c.*4C= XP_011518637.1:n.*4C=
XM_011520335.2:c.*4C= XP_011518637.1:n.*4C=
NM_000360.4:c.*4C= MANE Select NP_000351.2:n.*4C=
NM_199292.3:c.*4C= NP_954986.2:n.*4C=
NM_199293.3:c.*4C= NP_954987.2:n.*4C=