Canonical Allele Identifier: CA472414057

Gene: TH

Linked Data

• ClinVar Variation Id: 2741607
• ClinVar RCV Id: RCV003511488
• dbSNP Id: rs755146302
• gnomAD v2: 11-2187907-G-C
• gnomAD v4: 11-2166677-G-C
• MyVariant Identifiers: chr11:g.2187907G>C (hg19) ; chr11:g.2166677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166677G>C , CM000673.2:g.2166677G>C	GRCh38
NC_000011.9:g.2187907G>C , CM000673.1:g.2187907G>C	GRCh37
NC_000011.8:g.2144483G>C	NCBI36
NG_008128.1:g.10129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.933C>G MANE Select	ENSP00000325951.4:p.Thr311=
ENST00000324155.8:c.*622C>G	ENSP00000325831.3:n.*622C>G
ENST00000333684.9:c.696-128C>G	ENSP00000328814.6:n.696-128C>G
ENST00000352909.7:c.933C>G	ENSP00000325951.3:p.Thr311=
ENST00000381168.7:c.*653C>G	ENSP00000370560.3:n.*653C>G
ENST00000381175.5:c.1014C>G	ENSP00000370567.1:p.Thr338=
ENST00000381178.5:c.1026C>G	ENSP00000370571.1:p.Thr342=
ENST00000412076.1:c.136-128C>G
ENST00000416223.5:c.227C>G
ENST00000461172.1:n.98C>G
ENST00000479437.5:n.482C>G
NM_000360.3:c.933C>G	NP_000351.2:p.Thr311=
NM_199292.2:c.1026C>G	NP_954986.2:p.Thr342=
NM_199293.2:c.1014C>G	NP_954987.2:p.Thr338=
XM_011520335.1:c.945C>G	XP_011518637.1:p.Thr315=
XM_011520335.2:c.945C>G	XP_011518637.1:p.Thr315=
NM_000360.4:c.933C>G MANE Select	NP_000351.2:p.Thr311=
NM_199292.3:c.1026C>G	NP_954986.2:p.Thr342=
NM_199293.3:c.1014C>G	NP_954987.2:p.Thr338=