Canonical Allele Identifier: CA1948009343
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169502C= , CM000673.2:g.2169502C= GRCh38
NC_000011.9:g.2190732C= , CM000673.1:g.2190732C= GRCh37
NC_000011.8:g.2147308C= NCBI36
NG_008128.1:g.7304G=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.312+148G= MANE Select ENSP00000325951.4:n.312+148G=
ENST00000324155.8:c.*1+148G= ENSP00000325831.3:n.*1+148G=
ENST00000333684.9:c.312+148G= ENSP00000328814.6:n.312+148G=
ENST00000352909.7:c.312+148G= ENSP00000325951.3:n.312+148G=
ENST00000381168.7:c.*1+148G= ENSP00000370560.3:n.*1+148G=
ENST00000381175.5:c.393+148G= ENSP00000370567.1:n.393+148G=
ENST00000381178.5:c.405+148G= ENSP00000370571.1:n.405+148G=
NM_000360.3:c.312+148G= NP_000351.2:n.312+148G=
NM_199292.2:c.405+148G= NP_954986.2:n.405+148G=
NM_199293.2:c.393+148G= NP_954987.2:n.393+148G=
XM_011520335.1:c.324+148G= XP_011518637.1:n.324+148G=
XM_011520335.2:c.324+148G= XP_011518637.1:n.324+148G=
NM_000360.4:c.312+148G= MANE Select NP_000351.2:n.312+148G=
NM_199292.3:c.405+148G= NP_954986.2:n.405+148G=
NM_199293.3:c.393+148G= NP_954987.2:n.393+148G=