Canonical Allele Identifier: CA5818569

Gene: TH

Linked Data

• ClinVar Variation Id: 1129880
• ClinVar RCV Id: RCV001463211
• dbSNP Id: rs776723483
• ExAC: 11:2189088 C / G
• gnomAD v2: 11-2189088-C-G
• gnomAD v4: 11-2167858-C-G
• MyVariant Identifiers: chr11:g.2189088C>G (hg19) ; chr11:g.2167858C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167858C>G , CM000673.2:g.2167858C>G	GRCh38
NC_000011.9:g.2189088C>G , CM000673.1:g.2189088C>G	GRCh37
NC_000011.8:g.2145664C>G	NCBI36
NG_008128.1:g.8948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.644+8G>C MANE Select	ENSP00000325951.4:n.644+8G>C
ENST00000324155.8:c.*333+8G>C	ENSP00000325831.3:n.*333+8G>C
ENST00000333684.9:c.644+8G>C	ENSP00000328814.6:n.644+8G>C
ENST00000352909.7:c.644+8G>C	ENSP00000325951.3:n.644+8G>C
ENST00000381168.7:c.*333+8G>C	ENSP00000370560.3:n.*333+8G>C
ENST00000381175.5:c.725+8G>C	ENSP00000370567.1:n.725+8G>C
ENST00000381178.5:c.737+8G>C	ENSP00000370571.1:n.737+8G>C
ENST00000412076.1:c.84+8G>C
ENST00000416223.5:c.84+8G>C
ENST00000469226.1:n.401G>C
NM_000360.3:c.644+8G>C	NP_000351.2:n.644+8G>C
NM_199292.2:c.737+8G>C	NP_954986.2:n.737+8G>C
NM_199293.2:c.725+8G>C	NP_954987.2:n.725+8G>C
XM_011520335.1:c.656+8G>C	XP_011518637.1:n.656+8G>C
XM_011520335.2:c.656+8G>C	XP_011518637.1:n.656+8G>C
NM_000360.4:c.644+8G>C MANE Select	NP_000351.2:n.644+8G>C
NM_199292.3:c.737+8G>C	NP_954986.2:n.737+8G>C
NM_199293.3:c.725+8G>C	NP_954987.2:n.725+8G>C