Canonical Allele Identifier: CA472414321

Gene: TH

Linked Data

• ClinVar Variation Id: 1623164
• ClinVar RCV Id: RCV002104407
• dbSNP Id: rs1846110224
• gnomAD v4: 11-2166918-G-C
• MyVariant Identifiers: chr11:g.2188148G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166918G>C , CM000673.2:g.2166918G>C	GRCh38
NC_000011.9:g.2188148G>C , CM000673.1:g.2188148G>C	GRCh37
NC_000011.8:g.2144724G>C	NCBI36
NG_008128.1:g.9888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.810C>G MANE Select	ENSP00000325951.4:p.Pro270=
ENST00000324155.8:c.*499C>G	ENSP00000325831.3:n.*499C>G
ENST00000333684.9:c.696-369C>G	ENSP00000328814.6:n.696-369C>G
ENST00000352909.7:c.810C>G	ENSP00000325951.3:p.Pro270=
ENST00000381168.7:c.*530C>G	ENSP00000370560.3:n.*530C>G
ENST00000381175.5:c.891C>G	ENSP00000370567.1:p.Pro297=
ENST00000381178.5:c.903C>G	ENSP00000370571.1:p.Pro301=
ENST00000412076.1:c.136-369C>G
ENST00000416223.5:c.136-150C>G
ENST00000469226.1:n.939C>G
ENST00000479437.5:n.359C>G
NM_000360.3:c.810C>G	NP_000351.2:p.Pro270=
NM_199292.2:c.903C>G	NP_954986.2:p.Pro301=
NM_199293.2:c.891C>G	NP_954987.2:p.Pro297=
XM_011520335.1:c.822C>G	XP_011518637.1:p.Pro274=
XM_011520335.2:c.822C>G	XP_011518637.1:p.Pro274=
NM_000360.4:c.810C>G MANE Select	NP_000351.2:p.Pro270=
NM_199292.3:c.903C>G	NP_954986.2:p.Pro301=
NM_199293.3:c.891C>G	NP_954987.2:p.Pro297=