Canonical Allele Identifier: CA379126272

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187947T>G (hg19) ; chr11:g.2166717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166717T>G , CM000673.2:g.2166717T>G	GRCh38
NC_000011.9:g.2187947T>G , CM000673.1:g.2187947T>G	GRCh37
NC_000011.8:g.2144523T>G	NCBI36
NG_008128.1:g.10089A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.893A>C MANE Select	ENSP00000325951.4:p.Asp298Ala
ENST00000324155.8:c.*582A>C	ENSP00000325831.3:n.*582A>C
ENST00000333684.9:c.696-168A>C	ENSP00000328814.6:n.696-168A>C
ENST00000352909.7:c.893A>C	ENSP00000325951.3:p.Asp298Ala
ENST00000381168.7:c.*613A>C	ENSP00000370560.3:n.*613A>C
ENST00000381175.5:c.974A>C	ENSP00000370567.1:p.Asp325Ala
ENST00000381178.5:c.986A>C	ENSP00000370571.1:p.Asp329Ala
ENST00000412076.1:c.136-168A>C
ENST00000416223.5:c.187A>C
ENST00000461172.1:n.58A>C
ENST00000479437.5:n.442A>C
NM_000360.3:c.893A>C	NP_000351.2:p.Asp298Ala
NM_199292.2:c.986A>C	NP_954986.2:p.Asp329Ala
NM_199293.2:c.974A>C	NP_954987.2:p.Asp325Ala
XM_011520335.1:c.905A>C	XP_011518637.1:p.Asp302Ala
XM_011520335.2:c.905A>C	XP_011518637.1:p.Asp302Ala
NM_000360.4:c.893A>C MANE Select	NP_000351.2:p.Asp298Ala
NM_199292.3:c.986A>C	NP_954986.2:p.Asp329Ala
NM_199293.3:c.974A>C	NP_954987.2:p.Asp325Ala