Canonical Allele Identifier: CA1948006093

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167023G= , CM000673.2:g.2167023G=	GRCh38
NC_000011.9:g.2188253G= , CM000673.1:g.2188253G=	GRCh37
NC_000011.8:g.2144829G=	NCBI36
NG_008128.1:g.9783C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.705C= MANE Select	ENSP00000325951.4:p.Val235=
ENST00000324155.8:c.*394C=	ENSP00000325831.3:n.*394C=
ENST00000333684.9:c.695+412C=	ENSP00000328814.6:n.695+412C=
ENST00000352909.7:c.705C=	ENSP00000325951.3:p.Val235=
ENST00000381168.7:c.*425C=	ENSP00000370560.3:n.*425C=
ENST00000381175.5:c.786C=	ENSP00000370567.1:p.Val262=
ENST00000381178.5:c.798C=	ENSP00000370571.1:p.Val266=
ENST00000412076.1:c.135+412C=
ENST00000416223.5:c.136-255C=
ENST00000469226.1:n.834C=
ENST00000479437.5:n.254C=
NM_000360.3:c.705C=	NP_000351.2:p.Val235=
NM_199292.2:c.798C=	NP_954986.2:p.Val266=
NM_199293.2:c.786C=	NP_954987.2:p.Val262=
XM_011520335.1:c.717C=	XP_011518637.1:p.Val239=
XM_011520335.2:c.717C=	XP_011518637.1:p.Val239=
NM_000360.4:c.705C= MANE Select	NP_000351.2:p.Val235=
NM_199292.3:c.798C=	NP_954986.2:p.Val266=
NM_199293.3:c.786C=	NP_954987.2:p.Val262=