Canonical Allele Identifier: CA216284888

Gene: TH

Linked Data

• ClinVar Variation Id: 2889920
• ClinVar RCV Id: RCV003624169
• dbSNP Id: rs775900274
• MyVariant Identifiers: chr11:g.2187852C>G (hg19) ; chr11:g.2166622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166622C>G , CM000673.2:g.2166622C>G	GRCh38
NC_000011.9:g.2187852C>G , CM000673.1:g.2187852C>G	GRCh37
NC_000011.8:g.2144428C>G	NCBI36
NG_008128.1:g.10184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.977+11G>C MANE Select	ENSP00000325951.4:n.977+11G>C
ENST00000324155.8:c.*666+11G>C	ENSP00000325831.3:n.*666+11G>C
ENST00000333684.9:c.696-73G>C	ENSP00000328814.6:n.696-73G>C
ENST00000352909.7:c.977+11G>C	ENSP00000325951.3:n.977+11G>C
ENST00000381168.7:c.*697+11G>C	ENSP00000370560.3:n.*697+11G>C
ENST00000381175.5:c.1058+11G>C	ENSP00000370567.1:n.1058+11G>C
ENST00000381178.5:c.1070+11G>C	ENSP00000370571.1:n.1070+11G>C
ENST00000412076.1:c.136-73G>C
ENST00000416223.5:c.271+11G>C
ENST00000461172.1:n.142+11G>C
ENST00000479437.5:n.526+11G>C
NM_000360.3:c.977+11G>C	NP_000351.2:n.977+11G>C
NM_199292.2:c.1070+11G>C	NP_954986.2:n.1070+11G>C
NM_199293.2:c.1058+11G>C	NP_954987.2:n.1058+11G>C
XM_011520335.1:c.989+11G>C	XP_011518637.1:n.989+11G>C
XM_011520335.2:c.989+11G>C	XP_011518637.1:n.989+11G>C
NM_000360.4:c.977+11G>C MANE Select	NP_000351.2:n.977+11G>C
NM_199292.3:c.1070+11G>C	NP_954986.2:n.1070+11G>C
NM_199293.3:c.1058+11G>C	NP_954987.2:n.1058+11G>C