Canonical Allele Identifier: CA5818499

Gene: TH

Linked Data

• ClinVar Variation Id: 1346759
• ClinVar RCV Id: RCV002041489 ; RCV004038749
• dbSNP Id: rs369397659
• ExAC: 11:2188200 T / A
• gnomAD v2: 11-2188200-T-A
• gnomAD v3: 11-2166970-T-A
• gnomAD v4: 11-2166970-T-A
• MyVariant Identifiers: chr11:g.2188200T>A (hg19) ; chr11:g.2166970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166970T>A , CM000673.2:g.2166970T>A	GRCh38
NC_000011.9:g.2188200T>A , CM000673.1:g.2188200T>A	GRCh37
NC_000011.8:g.2144776T>A	NCBI36
NG_008128.1:g.9836A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.758A>T MANE Select	ENSP00000325951.4:p.Glu253Val
ENST00000324155.8:c.*447A>T	ENSP00000325831.3:n.*447A>T
ENST00000333684.9:c.696-421A>T	ENSP00000328814.6:n.696-421A>T
ENST00000352909.7:c.758A>T	ENSP00000325951.3:p.Glu253Val
ENST00000381168.7:c.*478A>T	ENSP00000370560.3:n.*478A>T
ENST00000381175.5:c.839A>T	ENSP00000370567.1:p.Glu280Val
ENST00000381178.5:c.851A>T	ENSP00000370571.1:p.Glu284Val
ENST00000412076.1:c.136-421A>T
ENST00000416223.5:c.136-202A>T
ENST00000469226.1:n.887A>T
ENST00000479437.5:n.307A>T
NM_000360.3:c.758A>T	NP_000351.2:p.Glu253Val
NM_199292.2:c.851A>T	NP_954986.2:p.Glu284Val
NM_199293.2:c.839A>T	NP_954987.2:p.Glu280Val
XM_011520335.1:c.770A>T	XP_011518637.1:p.Glu257Val
XM_011520335.2:c.770A>T	XP_011518637.1:p.Glu257Val
NM_000360.4:c.758A>T MANE Select	NP_000351.2:p.Glu253Val
NM_199292.3:c.851A>T	NP_954986.2:p.Glu284Val
NM_199293.3:c.839A>T	NP_954987.2:p.Glu280Val