Canonical Allele Identifier: CA379125696

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165727G>A , CM000673.2:g.2165727G>A	GRCh38
NC_000011.9:g.2186957G>A , CM000673.1:g.2186957G>A	GRCh37
NC_000011.8:g.2143533G>A	NCBI36
NG_007114.1:g.468C>T
NG_008128.1:g.11079C>T
NG_050578.1:g.483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1141C>T MANE Select	ENSP00000325951.4:p.Gln381Ter
ENST00000324155.8:c.*830C>T	ENSP00000325831.3:n.*830C>T
ENST00000333684.9:c.859C>T	ENSP00000328814.6:p.Gln287Ter
ENST00000352909.7:c.1141C>T	ENSP00000325951.3:p.Gln381Ter
ENST00000381175.5:c.1222C>T	ENSP00000370567.1:p.Gln408Ter
ENST00000381178.5:c.1234C>T	ENSP00000370571.1:p.Gln412Ter
ENST00000412076.1:c.299C>T
ENST00000416223.5:c.435C>T
ENST00000479437.5:n.690C>T
NM_000360.3:c.1141C>T	NP_000351.2:p.Gln381Ter
NM_199292.2:c.1234C>T	NP_954986.2:p.Gln412Ter
NM_199293.2:c.1222C>T	NP_954987.2:p.Gln408Ter
XM_011520335.1:c.1153C>T	XP_011518637.1:p.Gln385Ter
XM_011520335.2:c.1153C>T	XP_011518637.1:p.Gln385Ter
NM_000360.4:c.1141C>T MANE Select	NP_000351.2:p.Gln381Ter
NM_199292.3:c.1234C>T	NP_954986.2:p.Gln412Ter
NM_199293.3:c.1222C>T	NP_954987.2:p.Gln408Ter