Canonical Allele Identifier: CA472018839

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190988C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169758C>G , CM000673.2:g.2169758C>G	GRCh38
NC_000011.9:g.2190988C>G , CM000673.1:g.2190988C>G	GRCh37
NC_000011.8:g.2147564C>G	NCBI36
NG_008128.1:g.7048G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.204G>C MANE Select	ENSP00000325951.4:p.Leu68=
ENST00000324155.8:c.91-63G>C	ENSP00000325831.3:n.91-63G>C
ENST00000333684.9:c.204G>C	ENSP00000328814.6:p.Leu68=
ENST00000352909.7:c.204G>C	ENSP00000325951.3:p.Leu68=
ENST00000381168.7:c.103-63G>C	ENSP00000370560.3:n.103-63G>C
ENST00000381175.5:c.285G>C	ENSP00000370567.1:p.Leu95=
ENST00000381178.5:c.297G>C	ENSP00000370571.1:p.Leu99=
NM_000360.3:c.204G>C	NP_000351.2:p.Leu68=
NM_199292.2:c.297G>C	NP_954986.2:p.Leu99=
NM_199293.2:c.285G>C	NP_954987.2:p.Leu95=
XM_011520335.1:c.216G>C	XP_011518637.1:p.Leu72=
XM_011520335.2:c.216G>C	XP_011518637.1:p.Leu72=
NM_000360.4:c.204G>C MANE Select	NP_000351.2:p.Leu68=
NM_199292.3:c.297G>C	NP_954986.2:p.Leu99=
NM_199293.3:c.285G>C	NP_954987.2:p.Leu95=