Canonical Allele Identifier: CA472019103

Gene: TH

Linked Data

• ClinVar Variation Id: 1999209
• ClinVar RCV Id: RCV002815242
• MyVariant Identifiers: chr11:g.2192918C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171688C>T , CM000673.2:g.2171688C>T	GRCh38
NC_000011.9:g.2192918C>T , CM000673.1:g.2192918C>T	GRCh37
NC_000011.8:g.2149494C>T	NCBI36
NG_008128.1:g.5118G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.90+9G>A MANE Select	ENSP00000325951.4:n.90+9G>A
ENST00000324155.8:c.90+9G>A	ENSP00000325831.3:n.90+9G>A
ENST00000333684.9:c.90+9G>A	ENSP00000328814.6:n.90+9G>A
ENST00000352909.7:c.90+9G>A	ENSP00000325951.3:n.90+9G>A
ENST00000381168.7:c.99G>A	ENSP00000370560.3:p.Gly33=
ENST00000381175.5:c.90+9G>A	ENSP00000370567.1:n.90+9G>A
ENST00000381178.5:c.99G>A	ENSP00000370571.1:p.Gly33=
NM_000360.3:c.90+9G>A	NP_000351.2:n.90+9G>A
NM_199292.2:c.99G>A	NP_954986.2:p.Gly33=
NM_199293.2:c.90+9G>A	NP_954987.2:n.90+9G>A
XM_011520335.1:c.99G>A	XP_011518637.1:p.Gly33=
XM_011520335.2:c.99G>A	XP_011518637.1:p.Gly33=
NM_000360.4:c.90+9G>A MANE Select	NP_000351.2:n.90+9G>A
NM_199292.3:c.99G>A	NP_954986.2:p.Gly33=
NM_199293.3:c.90+9G>A	NP_954987.2:n.90+9G>A