Canonical Allele Identifier: CA5818587

Gene: TH

Linked Data

• ClinVar Variation Id: 417039
• ClinVar RCV Id: RCV000470883 ; RCV001106433 ; RCV003960115
• dbSNP Id: rs147852210
• ExAC: 11:2189161 G / A
• gnomAD v2: 11-2189161-G-A
• gnomAD v3: 11-2167931-G-A
• gnomAD v4: 11-2167931-G-A
• MyVariant Identifiers: chr11:g.2189161G>A (hg19) ; chr11:g.2167931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167931G>A , CM000673.2:g.2167931G>A	GRCh38
NC_000011.9:g.2189161G>A , CM000673.1:g.2189161G>A	GRCh37
NC_000011.8:g.2145737G>A	NCBI36
NG_008128.1:g.8875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.579C>T MANE Select	ENSP00000325951.4:p.Gly193=
ENST00000324155.8:c.*268C>T	ENSP00000325831.3:n.*268C>T
ENST00000333684.9:c.579C>T	ENSP00000328814.6:p.Gly193=
ENST00000352909.7:c.579C>T	ENSP00000325951.3:p.Gly193=
ENST00000381168.7:c.*268C>T	ENSP00000370560.3:n.*268C>T
ENST00000381175.5:c.660C>T	ENSP00000370567.1:p.Gly220=
ENST00000381178.5:c.672C>T	ENSP00000370571.1:p.Gly224=
ENST00000412076.1:c.19C>T
ENST00000416223.5:c.19C>T
ENST00000469226.1:n.328C>T
NM_000360.3:c.579C>T	NP_000351.2:p.Gly193=
NM_199292.2:c.672C>T	NP_954986.2:p.Gly224=
NM_199293.2:c.660C>T	NP_954987.2:p.Gly220=
XM_011520335.1:c.591C>T	XP_011518637.1:p.Gly197=
XM_011520335.2:c.591C>T	XP_011518637.1:p.Gly197=
NM_000360.4:c.579C>T MANE Select	NP_000351.2:p.Gly193=
NM_199292.3:c.672C>T	NP_954986.2:p.Gly224=
NM_199293.3:c.660C>T	NP_954987.2:p.Gly220=