Canonical Allele Identifier: CA379126793

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188183C>G (hg19) ; chr11:g.2166953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166953C>G , CM000673.2:g.2166953C>G	GRCh38
NC_000011.9:g.2188183C>G , CM000673.1:g.2188183C>G	GRCh37
NC_000011.8:g.2144759C>G	NCBI36
NG_008128.1:g.9853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.775G>C MANE Select	ENSP00000325951.4:p.Glu259Gln
ENST00000324155.8:c.*464G>C	ENSP00000325831.3:n.*464G>C
ENST00000333684.9:c.696-404G>C	ENSP00000328814.6:n.696-404G>C
ENST00000352909.7:c.775G>C	ENSP00000325951.3:p.Glu259Gln
ENST00000381168.7:c.*495G>C	ENSP00000370560.3:n.*495G>C
ENST00000381175.5:c.856G>C	ENSP00000370567.1:p.Glu286Gln
ENST00000381178.5:c.868G>C	ENSP00000370571.1:p.Glu290Gln
ENST00000412076.1:c.136-404G>C
ENST00000416223.5:c.136-185G>C
ENST00000469226.1:n.904G>C
ENST00000479437.5:n.324G>C
NM_000360.3:c.775G>C	NP_000351.2:p.Glu259Gln
NM_199292.2:c.868G>C	NP_954986.2:p.Glu290Gln
NM_199293.2:c.856G>C	NP_954987.2:p.Glu286Gln
XM_011520335.1:c.787G>C	XP_011518637.1:p.Glu263Gln
XM_011520335.2:c.787G>C	XP_011518637.1:p.Glu263Gln
NM_000360.4:c.775G>C MANE Select	NP_000351.2:p.Glu259Gln
NM_199292.3:c.868G>C	NP_954986.2:p.Glu290Gln
NM_199293.3:c.856G>C	NP_954987.2:p.Glu286Gln