Canonical Allele Identifier: CA5818491

Gene: TH

Linked Data

• ClinVar Variation Id: 709609
• ClinVar RCV Id: RCV000881052
• dbSNP Id: rs753109309
• ExAC: 11:2188172 G / A
• gnomAD v2: 11-2188172-G-A
• gnomAD v3: 11-2166942-G-A
• gnomAD v4: 11-2166942-G-A
• MyVariant Identifiers: chr11:g.2188172G>A (hg19) ; chr11:g.2166942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166942G>A , CM000673.2:g.2166942G>A	GRCh38
NC_000011.9:g.2188172G>A , CM000673.1:g.2188172G>A	GRCh37
NC_000011.8:g.2144748G>A	NCBI36
NG_008128.1:g.9864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.786C>T MANE Select	ENSP00000325951.4:p.Ser262=
ENST00000324155.8:c.*475C>T	ENSP00000325831.3:n.*475C>T
ENST00000333684.9:c.696-393C>T	ENSP00000328814.6:n.696-393C>T
ENST00000352909.7:c.786C>T	ENSP00000325951.3:p.Ser262=
ENST00000381168.7:c.*506C>T	ENSP00000370560.3:n.*506C>T
ENST00000381175.5:c.867C>T	ENSP00000370567.1:p.Ser289=
ENST00000381178.5:c.879C>T	ENSP00000370571.1:p.Ser293=
ENST00000412076.1:c.136-393C>T
ENST00000416223.5:c.136-174C>T
ENST00000469226.1:n.915C>T
ENST00000479437.5:n.335C>T
NM_000360.3:c.786C>T	NP_000351.2:p.Ser262=
NM_199292.2:c.879C>T	NP_954986.2:p.Ser293=
NM_199293.2:c.867C>T	NP_954987.2:p.Ser289=
XM_011520335.1:c.798C>T	XP_011518637.1:p.Ser266=
XM_011520335.2:c.798C>T	XP_011518637.1:p.Ser266=
NM_000360.4:c.786C>T MANE Select	NP_000351.2:p.Ser262=
NM_199292.3:c.879C>T	NP_954986.2:p.Ser293=
NM_199293.3:c.867C>T	NP_954987.2:p.Ser289=