Canonical Allele Identifier: CA379126724

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188170C>G (hg19) ; chr11:g.2166940C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166940C>G , CM000673.2:g.2166940C>G	GRCh38
NC_000011.9:g.2188170C>G , CM000673.1:g.2188170C>G	GRCh37
NC_000011.8:g.2144746C>G	NCBI36
NG_008128.1:g.9866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.788G>C MANE Select	ENSP00000325951.4:p.Gly263Ala
ENST00000324155.8:c.*477G>C	ENSP00000325831.3:n.*477G>C
ENST00000333684.9:c.696-391G>C	ENSP00000328814.6:n.696-391G>C
ENST00000352909.7:c.788G>C	ENSP00000325951.3:p.Gly263Ala
ENST00000381168.7:c.*508G>C	ENSP00000370560.3:n.*508G>C
ENST00000381175.5:c.869G>C	ENSP00000370567.1:p.Gly290Ala
ENST00000381178.5:c.881G>C	ENSP00000370571.1:p.Gly294Ala
ENST00000412076.1:c.136-391G>C
ENST00000416223.5:c.136-172G>C
ENST00000469226.1:n.917G>C
ENST00000479437.5:n.337G>C
NM_000360.3:c.788G>C	NP_000351.2:p.Gly263Ala
NM_199292.2:c.881G>C	NP_954986.2:p.Gly294Ala
NM_199293.2:c.869G>C	NP_954987.2:p.Gly290Ala
XM_011520335.1:c.800G>C	XP_011518637.1:p.Gly267Ala
XM_011520335.2:c.800G>C	XP_011518637.1:p.Gly267Ala
NM_000360.4:c.788G>C MANE Select	NP_000351.2:p.Gly263Ala
NM_199292.3:c.881G>C	NP_954986.2:p.Gly294Ala
NM_199293.3:c.869G>C	NP_954987.2:p.Gly290Ala