Canonical Allele Identifier: CA2697558818

Gene: TH

Linked Data

• ClinVar Variation Id: 2748433
• ClinVar RCV Id: RCV003511661

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166777G>C , CM000673.2:g.2166777G>C	GRCh38
NC_000011.9:g.2188007G>C , CM000673.1:g.2188007G>C	GRCh37
NC_000011.8:g.2144583G>C	NCBI36
NG_008128.1:g.10029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.842-9C>G MANE Select	ENSP00000325951.4:n.842-9C>G
ENST00000324155.8:c.*531-9C>G	ENSP00000325831.3:n.*531-9C>G
ENST00000333684.9:c.696-228C>G	ENSP00000328814.6:n.696-228C>G
ENST00000352909.7:c.842-9C>G	ENSP00000325951.3:n.842-9C>G
ENST00000381168.7:c.*562-9C>G	ENSP00000370560.3:n.*562-9C>G
ENST00000381175.5:c.923-9C>G	ENSP00000370567.1:n.923-9C>G
ENST00000381178.5:c.935-9C>G	ENSP00000370571.1:n.935-9C>G
ENST00000412076.1:c.136-228C>G
ENST00000416223.5:c.136-9C>G
ENST00000479437.5:n.391-9C>G
NM_000360.3:c.842-9C>G	NP_000351.2:n.842-9C>G
NM_199292.2:c.935-9C>G	NP_954986.2:n.935-9C>G
NM_199293.2:c.923-9C>G	NP_954987.2:n.923-9C>G
XM_011520335.1:c.854-9C>G	XP_011518637.1:n.854-9C>G
XM_011520335.2:c.854-9C>G	XP_011518637.1:n.854-9C>G
NM_000360.4:c.842-9C>G MANE Select	NP_000351.2:n.842-9C>G
NM_199292.3:c.935-9C>G	NP_954986.2:n.935-9C>G
NM_199293.3:c.923-9C>G	NP_954987.2:n.923-9C>G