Canonical Allele Identifier: CA5818486

Gene: TH

Linked Data

• ClinVar Variation Id: 857525
• ClinVar RCV Id: RCV001277075
• dbSNP Id: rs199961079
• ExAC: 11:2188164 C / T
• gnomAD v2: 11-2188164-C-T
• gnomAD v3: 11-2166934-C-T
• gnomAD v4: 11-2166934-C-T
• MyVariant Identifiers: chr11:g.2188164C>T (hg19) ; chr11:g.2166934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166934C>T , CM000673.2:g.2166934C>T	GRCh38
NC_000011.9:g.2188164C>T , CM000673.1:g.2188164C>T	GRCh37
NC_000011.8:g.2144740C>T	NCBI36
NG_008128.1:g.9872G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.794G>A MANE Select	ENSP00000325951.4:p.Arg265Gln
ENST00000324155.8:c.*483G>A	ENSP00000325831.3:n.*483G>A
ENST00000333684.9:c.696-385G>A	ENSP00000328814.6:n.696-385G>A
ENST00000352909.7:c.794G>A	ENSP00000325951.3:p.Arg265Gln
ENST00000381168.7:c.*514G>A	ENSP00000370560.3:n.*514G>A
ENST00000381175.5:c.875G>A	ENSP00000370567.1:p.Arg292Gln
ENST00000381178.5:c.887G>A	ENSP00000370571.1:p.Arg296Gln
ENST00000412076.1:c.136-385G>A
ENST00000416223.5:c.136-166G>A
ENST00000469226.1:n.923G>A
ENST00000479437.5:n.343G>A
NM_000360.3:c.794G>A	NP_000351.2:p.Arg265Gln
NM_199292.2:c.887G>A	NP_954986.2:p.Arg296Gln
NM_199293.2:c.875G>A	NP_954987.2:p.Arg292Gln
XM_011520335.1:c.806G>A	XP_011518637.1:p.Arg269Gln
XM_011520335.2:c.806G>A	XP_011518637.1:p.Arg269Gln
NM_000360.4:c.794G>A MANE Select	NP_000351.2:p.Arg265Gln
NM_199292.3:c.887G>A	NP_954986.2:p.Arg296Gln
NM_199293.3:c.875G>A	NP_954987.2:p.Arg292Gln