Canonical Allele Identifier: CA216227842

Gene: TH

Linked Data

• ClinVar Variation Id: 493087
• ClinVar RCV Id: RCV000585047 ; RCV002530832
• dbSNP Id: rs996766545
• gnomAD v2: 11-2191094-C-T
• gnomAD v3: 11-2169864-C-T
• gnomAD v4: 11-2169864-C-T
• COSMIC: COSM4651081
• MyVariant Identifiers: chr11:g.2191094C>T (hg19) ; chr11:g.2169864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169864C>T , CM000673.2:g.2169864C>T	GRCh38
NC_000011.9:g.2191094C>T , CM000673.1:g.2191094C>T	GRCh37
NC_000011.8:g.2147670C>T	NCBI36
NG_008128.1:g.6942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.98G>A MANE Select	ENSP00000325951.4:p.Arg33Gln
ENST00000324155.8:c.91-169G>A	ENSP00000325831.3:n.91-169G>A
ENST00000333684.9:c.98G>A	ENSP00000328814.6:p.Arg33Gln
ENST00000352909.7:c.98G>A	ENSP00000325951.3:p.Arg33Gln
ENST00000381168.7:c.103-169G>A	ENSP00000370560.3:n.103-169G>A
ENST00000381175.5:c.179G>A	ENSP00000370567.1:p.Arg60Gln
ENST00000381178.5:c.191G>A	ENSP00000370571.1:p.Arg64Gln
NM_000360.3:c.98G>A	NP_000351.2:p.Arg33Gln
NM_199292.2:c.191G>A	NP_954986.2:p.Arg64Gln
NM_199293.2:c.179G>A	NP_954987.2:p.Arg60Gln
XM_011520335.1:c.110G>A	XP_011518637.1:p.Arg37Gln
XM_011520335.2:c.110G>A	XP_011518637.1:p.Arg37Gln
NM_000360.4:c.98G>A MANE Select	NP_000351.2:p.Arg33Gln
NM_199292.3:c.191G>A	NP_954986.2:p.Arg64Gln
NM_199293.3:c.179G>A	NP_954987.2:p.Arg60Gln