Canonical Allele Identifier: CA1948005341

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166659C= , CM000673.2:g.2166659C=	GRCh38
NC_000011.9:g.2187889C= , CM000673.1:g.2187889C=	GRCh37
NC_000011.8:g.2144465C=	NCBI36
NG_008128.1:g.10147G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.951G= MANE Select	ENSP00000325951.4:p.Ala317=
ENST00000324155.8:c.*640G=	ENSP00000325831.3:n.*640G=
ENST00000333684.9:c.696-110G=	ENSP00000328814.6:n.696-110G=
ENST00000352909.7:c.951G=	ENSP00000325951.3:p.Ala317=
ENST00000381168.7:c.*671G=	ENSP00000370560.3:n.*671G=
ENST00000381175.5:c.1032G=	ENSP00000370567.1:p.Ala344=
ENST00000381178.5:c.1044G=	ENSP00000370571.1:p.Ala348=
ENST00000412076.1:c.136-110G=
ENST00000416223.5:c.245G=
ENST00000461172.1:n.116G=
ENST00000479437.5:n.500G=
NM_000360.3:c.951G=	NP_000351.2:p.Ala317=
NM_199292.2:c.1044G=	NP_954986.2:p.Ala348=
NM_199293.2:c.1032G=	NP_954987.2:p.Ala344=
XM_011520335.1:c.963G=	XP_011518637.1:p.Ala321=
XM_011520335.2:c.963G=	XP_011518637.1:p.Ala321=
NM_000360.4:c.951G= MANE Select	NP_000351.2:p.Ala317=
NM_199292.3:c.1044G=	NP_954986.2:p.Ala348=
NM_199293.3:c.1032G=	NP_954987.2:p.Ala344=