Canonical Allele Identifier: CA472035143

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2189119A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167889A>C , CM000673.2:g.2167889A>C	GRCh38
NC_000011.9:g.2189119A>C , CM000673.1:g.2189119A>C	GRCh37
NC_000011.8:g.2145695A>C	NCBI36
NG_008128.1:g.8917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.621T>G MANE Select	ENSP00000325951.4:p.Ala207=
ENST00000324155.8:c.*310T>G	ENSP00000325831.3:n.*310T>G
ENST00000333684.9:c.621T>G	ENSP00000328814.6:p.Ala207=
ENST00000352909.7:c.621T>G	ENSP00000325951.3:p.Ala207=
ENST00000381168.7:c.*310T>G	ENSP00000370560.3:n.*310T>G
ENST00000381175.5:c.702T>G	ENSP00000370567.1:p.Ala234=
ENST00000381178.5:c.714T>G	ENSP00000370571.1:p.Ala238=
ENST00000412076.1:c.61T>G
ENST00000416223.5:c.61T>G
ENST00000469226.1:n.370T>G
NM_000360.3:c.621T>G	NP_000351.2:p.Ala207=
NM_199292.2:c.714T>G	NP_954986.2:p.Ala238=
NM_199293.2:c.702T>G	NP_954987.2:p.Ala234=
XM_011520335.1:c.633T>G	XP_011518637.1:p.Ala211=
XM_011520335.2:c.633T>G	XP_011518637.1:p.Ala211=
NM_000360.4:c.621T>G MANE Select	NP_000351.2:p.Ala207=
NM_199292.3:c.714T>G	NP_954986.2:p.Ala238=
NM_199293.3:c.702T>G	NP_954987.2:p.Ala234=