Canonical Allele Identifier: CA5818507

Gene: TH

Linked Data

• ClinVar Variation Id: 1077894
• ClinVar RCV Id: RCV001392617
• dbSNP Id: rs752953358
• ExAC: 11:2188235 G / T
• gnomAD v2: 11-2188235-G-T
• gnomAD v3: 11-2167005-G-T
• gnomAD v4: 11-2167005-G-T
• MyVariant Identifiers: chr11:g.2188235G>T (hg19) ; chr11:g.2167005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167005G>T , CM000673.2:g.2167005G>T	GRCh38
NC_000011.9:g.2188235G>T , CM000673.1:g.2188235G>T	GRCh37
NC_000011.8:g.2144811G>T	NCBI36
NG_008128.1:g.9801C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.723C>A MANE Select	ENSP00000325951.4:p.Gly241=
ENST00000324155.8:c.*412C>A	ENSP00000325831.3:n.*412C>A
ENST00000333684.9:c.695+430C>A	ENSP00000328814.6:n.695+430C>A
ENST00000352909.7:c.723C>A	ENSP00000325951.3:p.Gly241=
ENST00000381168.7:c.*443C>A	ENSP00000370560.3:n.*443C>A
ENST00000381175.5:c.804C>A	ENSP00000370567.1:p.Gly268=
ENST00000381178.5:c.816C>A	ENSP00000370571.1:p.Gly272=
ENST00000412076.1:c.135+430C>A
ENST00000416223.5:c.136-237C>A
ENST00000469226.1:n.852C>A
ENST00000479437.5:n.272C>A
NM_000360.3:c.723C>A	NP_000351.2:p.Gly241=
NM_199292.2:c.816C>A	NP_954986.2:p.Gly272=
NM_199293.2:c.804C>A	NP_954987.2:p.Gly268=
XM_011520335.1:c.735C>A	XP_011518637.1:p.Gly245=
XM_011520335.2:c.735C>A	XP_011518637.1:p.Gly245=
NM_000360.4:c.723C>A MANE Select	NP_000351.2:p.Gly241=
NM_199292.3:c.816C>A	NP_954986.2:p.Gly272=
NM_199293.3:c.804C>A	NP_954987.2:p.Gly268=