Canonical Allele Identifier: CA597431463

Gene: TH

Linked Data

• ClinVar Variation Id: 1613482
• ClinVar RCV Id: RCV002171287
• dbSNP Id: rs1289211521
• gnomAD v2: 11-2188102-C-G
• gnomAD v4: 11-2166872-C-G
• MyVariant Identifiers: chr11:g.2188102C>G (hg19) ; chr11:g.2166872C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166872C>G , CM000673.2:g.2166872C>G	GRCh38
NC_000011.9:g.2188102C>G , CM000673.1:g.2188102C>G	GRCh37
NC_000011.8:g.2144678C>G	NCBI36
NG_008128.1:g.9934G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.841+15G>C MANE Select	ENSP00000325951.4:n.841+15G>C
ENST00000324155.8:c.*530+15G>C	ENSP00000325831.3:n.*530+15G>C
ENST00000333684.9:c.696-323G>C	ENSP00000328814.6:n.696-323G>C
ENST00000352909.7:c.841+15G>C	ENSP00000325951.3:n.841+15G>C
ENST00000381168.7:c.*561+15G>C	ENSP00000370560.3:n.*561+15G>C
ENST00000381175.5:c.922+15G>C	ENSP00000370567.1:n.922+15G>C
ENST00000381178.5:c.934+15G>C	ENSP00000370571.1:n.934+15G>C
ENST00000412076.1:c.136-323G>C
ENST00000416223.5:c.136-104G>C
ENST00000479437.5:n.390+15G>C
NM_000360.3:c.841+15G>C	NP_000351.2:n.841+15G>C
NM_199292.2:c.934+15G>C	NP_954986.2:n.934+15G>C
NM_199293.2:c.922+15G>C	NP_954987.2:n.922+15G>C
XM_011520335.1:c.853+15G>C	XP_011518637.1:n.853+15G>C
XM_011520335.2:c.853+15G>C	XP_011518637.1:n.853+15G>C
NM_000360.4:c.841+15G>C MANE Select	NP_000351.2:n.841+15G>C
NM_199292.3:c.934+15G>C	NP_954986.2:n.934+15G>C
NM_199293.3:c.922+15G>C	NP_954987.2:n.922+15G>C