Canonical Allele Identifier: CA674604777

Gene: TH

Linked Data

• ClinVar Variation Id: 1584650
• ClinVar RCV Id: RCV002102743
• dbSNP Id: rs1343146453
• gnomAD v3: 11-2171670-C-T
• gnomAD v4: 11-2171670-C-T
• MyVariant Identifiers: chr11:g.2192900C>T (hg19) ; chr11:g.2171670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171670C>T , CM000673.2:g.2171670C>T	GRCh38
NC_000011.9:g.2192900C>T , CM000673.1:g.2192900C>T	GRCh37
NC_000011.8:g.2149476C>T	NCBI36
NG_008128.1:g.5136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+27G>A MANE Select	ENSP00000325951.4:n.90+27G>A
ENST00000324155.8:c.90+27G>A	ENSP00000325831.3:n.90+27G>A
ENST00000333684.9:c.90+27G>A	ENSP00000328814.6:n.90+27G>A
ENST00000352909.7:c.90+27G>A	ENSP00000325951.3:n.90+27G>A
ENST00000381168.7:c.102+15G>A	ENSP00000370560.3:n.102+15G>A
ENST00000381175.5:c.90+27G>A	ENSP00000370567.1:n.90+27G>A
ENST00000381178.5:c.102+15G>A	ENSP00000370571.1:n.102+15G>A
NM_000360.3:c.90+27G>A	NP_000351.2:n.90+27G>A
NM_199292.2:c.102+15G>A	NP_954986.2:n.102+15G>A
NM_199293.2:c.90+27G>A	NP_954987.2:n.90+27G>A
XM_011520335.1:c.102+15G>A	XP_011518637.1:n.102+15G>A
XM_011520335.2:c.102+15G>A	XP_011518637.1:n.102+15G>A
NM_000360.4:c.90+27G>A MANE Select	NP_000351.2:n.90+27G>A
NM_199292.3:c.102+15G>A	NP_954986.2:n.102+15G>A
NM_199293.3:c.90+27G>A	NP_954987.2:n.90+27G>A