Canonical Allele Identifier: CA379126503

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188123G>C (hg19) ; chr11:g.2166893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166893G>C , CM000673.2:g.2166893G>C	GRCh38
NC_000011.9:g.2188123G>C , CM000673.1:g.2188123G>C	GRCh37
NC_000011.8:g.2144699G>C	NCBI36
NG_008128.1:g.9913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.835C>G MANE Select	ENSP00000325951.4:p.Leu279Val
ENST00000324155.8:c.*524C>G	ENSP00000325831.3:n.*524C>G
ENST00000333684.9:c.696-344C>G	ENSP00000328814.6:n.696-344C>G
ENST00000352909.7:c.835C>G	ENSP00000325951.3:p.Leu279Val
ENST00000381168.7:c.*555C>G	ENSP00000370560.3:n.*555C>G
ENST00000381175.5:c.916C>G	ENSP00000370567.1:p.Leu306Val
ENST00000381178.5:c.928C>G	ENSP00000370571.1:p.Leu310Val
ENST00000412076.1:c.136-344C>G
ENST00000416223.5:c.136-125C>G
ENST00000479437.5:n.384C>G
NM_000360.3:c.835C>G	NP_000351.2:p.Leu279Val
NM_199292.2:c.928C>G	NP_954986.2:p.Leu310Val
NM_199293.2:c.916C>G	NP_954987.2:p.Leu306Val
XM_011520335.1:c.847C>G	XP_011518637.1:p.Leu283Val
XM_011520335.2:c.847C>G	XP_011518637.1:p.Leu283Val
NM_000360.4:c.835C>G MANE Select	NP_000351.2:p.Leu279Val
NM_199292.3:c.928C>G	NP_954986.2:p.Leu310Val
NM_199293.3:c.916C>G	NP_954987.2:p.Leu306Val