Canonical Allele Identifier: CA5818443

Gene: TH

Linked Data

• ClinVar Variation Id: 263250
• ClinVar RCV Id: RCV000250457 ; RCV000278788 ; RCV000710269
• dbSNP Id: rs12419447
• ExAC: 11:2187855 G / C
• gnomAD v2: 11-2187855-G-C
• gnomAD v3: 11-2166625-G-C
• gnomAD v4: 11-2166625-G-C
• MyVariant Identifiers: chr11:g.2187855G>C (hg19) ; chr11:g.2166625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166625G>C , CM000673.2:g.2166625G>C	GRCh38
NC_000011.9:g.2187855G>C , CM000673.1:g.2187855G>C	GRCh37
NC_000011.8:g.2144431G>C	NCBI36
NG_008128.1:g.10181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.977+8C>G MANE Select	ENSP00000325951.4:n.977+8C>G
ENST00000324155.8:c.*666+8C>G	ENSP00000325831.3:n.*666+8C>G
ENST00000333684.9:c.696-76C>G	ENSP00000328814.6:n.696-76C>G
ENST00000352909.7:c.977+8C>G	ENSP00000325951.3:n.977+8C>G
ENST00000381168.7:c.*697+8C>G	ENSP00000370560.3:n.*697+8C>G
ENST00000381175.5:c.1058+8C>G	ENSP00000370567.1:n.1058+8C>G
ENST00000381178.5:c.1070+8C>G	ENSP00000370571.1:n.1070+8C>G
ENST00000412076.1:c.136-76C>G
ENST00000416223.5:c.271+8C>G
ENST00000461172.1:n.142+8C>G
ENST00000479437.5:n.526+8C>G
NM_000360.3:c.977+8C>G	NP_000351.2:n.977+8C>G
NM_199292.2:c.1070+8C>G	NP_954986.2:n.1070+8C>G
NM_199293.2:c.1058+8C>G	NP_954987.2:n.1058+8C>G
XM_011520335.1:c.989+8C>G	XP_011518637.1:n.989+8C>G
XM_011520335.2:c.989+8C>G	XP_011518637.1:n.989+8C>G
NM_000360.4:c.977+8C>G MANE Select	NP_000351.2:n.977+8C>G
NM_199292.3:c.1070+8C>G	NP_954986.2:n.1070+8C>G
NM_199293.3:c.1058+8C>G	NP_954987.2:n.1058+8C>G