Canonical Allele Identifier: CA379127183

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188261T>G (hg19) ; chr11:g.2167031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167031T>G , CM000673.2:g.2167031T>G	GRCh38
NC_000011.9:g.2188261T>G , CM000673.1:g.2188261T>G	GRCh37
NC_000011.8:g.2144837T>G	NCBI36
NG_008128.1:g.9775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.697A>C MANE Select	ENSP00000325951.4:p.Lys233Gln
ENST00000324155.8:c.*386A>C	ENSP00000325831.3:n.*386A>C
ENST00000333684.9:c.695+404A>C	ENSP00000328814.6:n.695+404A>C
ENST00000352909.7:c.697A>C	ENSP00000325951.3:p.Lys233Gln
ENST00000381168.7:c.*417A>C	ENSP00000370560.3:n.*417A>C
ENST00000381175.5:c.778A>C	ENSP00000370567.1:p.Lys260Gln
ENST00000381178.5:c.790A>C	ENSP00000370571.1:p.Lys264Gln
ENST00000412076.1:c.135+404A>C
ENST00000416223.5:c.136-263A>C
ENST00000469226.1:n.826A>C
ENST00000479437.5:n.246A>C
NM_000360.3:c.697A>C	NP_000351.2:p.Lys233Gln
NM_199292.2:c.790A>C	NP_954986.2:p.Lys264Gln
NM_199293.2:c.778A>C	NP_954987.2:p.Lys260Gln
XM_011520335.1:c.709A>C	XP_011518637.1:p.Lys237Gln
XM_011520335.2:c.709A>C	XP_011518637.1:p.Lys237Gln
NM_000360.4:c.697A>C MANE Select	NP_000351.2:p.Lys233Gln
NM_199292.3:c.790A>C	NP_954986.2:p.Lys264Gln
NM_199293.3:c.778A>C	NP_954987.2:p.Lys260Gln