Canonical Allele Identifier: CA379126143

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187888A>C (hg19) ; chr11:g.2166658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166658A>C , CM000673.2:g.2166658A>C	GRCh38
NC_000011.9:g.2187888A>C , CM000673.1:g.2187888A>C	GRCh37
NC_000011.8:g.2144464A>C	NCBI36
NG_008128.1:g.10148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.952T>G MANE Select	ENSP00000325951.4:p.Ser318Ala
ENST00000324155.8:c.*641T>G	ENSP00000325831.3:n.*641T>G
ENST00000333684.9:c.696-109T>G	ENSP00000328814.6:n.696-109T>G
ENST00000352909.7:c.952T>G	ENSP00000325951.3:p.Ser318Ala
ENST00000381168.7:c.*672T>G	ENSP00000370560.3:n.*672T>G
ENST00000381175.5:c.1033T>G	ENSP00000370567.1:p.Ser345Ala
ENST00000381178.5:c.1045T>G	ENSP00000370571.1:p.Ser349Ala
ENST00000412076.1:c.136-109T>G
ENST00000416223.5:c.246T>G
ENST00000461172.1:n.117T>G
ENST00000479437.5:n.501T>G
NM_000360.3:c.952T>G	NP_000351.2:p.Ser318Ala
NM_199292.2:c.1045T>G	NP_954986.2:p.Ser349Ala
NM_199293.2:c.1033T>G	NP_954987.2:p.Ser345Ala
XM_011520335.1:c.964T>G	XP_011518637.1:p.Ser322Ala
XM_011520335.2:c.964T>G	XP_011518637.1:p.Ser322Ala
NM_000360.4:c.952T>G MANE Select	NP_000351.2:p.Ser318Ala
NM_199292.3:c.1045T>G	NP_954986.2:p.Ser349Ala
NM_199293.3:c.1033T>G	NP_954987.2:p.Ser345Ala