Canonical Allele Identifier: CA472414181

Gene: TH

Linked Data

• ClinVar Variation Id: 701681
• ClinVar RCV Id: RCV000870307
• dbSNP Id: rs1176834491
• gnomAD v2: 11-2187967-G-A
• gnomAD v3: 11-2166737-G-A
• gnomAD v4: 11-2166737-G-A
• MyVariant Identifiers: chr11:g.2187967G>A (hg19) ; chr11:g.2166737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166737G>A , CM000673.2:g.2166737G>A	GRCh38
NC_000011.9:g.2187967G>A , CM000673.1:g.2187967G>A	GRCh37
NC_000011.8:g.2144543G>A	NCBI36
NG_008128.1:g.10069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.873C>T MANE Select	ENSP00000325951.4:p.Ala291=
ENST00000324155.8:c.*562C>T	ENSP00000325831.3:n.*562C>T
ENST00000333684.9:c.696-188C>T	ENSP00000328814.6:n.696-188C>T
ENST00000352909.7:c.873C>T	ENSP00000325951.3:p.Ala291=
ENST00000381168.7:c.*593C>T	ENSP00000370560.3:n.*593C>T
ENST00000381175.5:c.954C>T	ENSP00000370567.1:p.Ala318=
ENST00000381178.5:c.966C>T	ENSP00000370571.1:p.Ala322=
ENST00000412076.1:c.136-188C>T
ENST00000416223.5:c.167C>T
ENST00000461172.1:n.38C>T
ENST00000479437.5:n.422C>T
NM_000360.3:c.873C>T	NP_000351.2:p.Ala291=
NM_199292.2:c.966C>T	NP_954986.2:p.Ala322=
NM_199293.2:c.954C>T	NP_954987.2:p.Ala318=
XM_011520335.1:c.885C>T	XP_011518637.1:p.Ala295=
XM_011520335.2:c.885C>T	XP_011518637.1:p.Ala295=
NM_000360.4:c.873C>T MANE Select	NP_000351.2:p.Ala291=
NM_199292.3:c.966C>T	NP_954986.2:p.Ala322=
NM_199293.3:c.954C>T	NP_954987.2:p.Ala318=