Canonical Allele Identifier: CA5818454

Gene: TH

Linked Data

• ClinVar Variation Id: 1528010
• ClinVar RCV Id: RCV002086769
• dbSNP Id: rs560689972
• ExAC: 11:2188012 C / T
• gnomAD v2: 11-2188012-C-T
• gnomAD v3: 11-2166782-C-T
• gnomAD v4: 11-2166782-C-T
• MyVariant Identifiers: chr11:g.2188012C>T (hg19) ; chr11:g.2166782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166782C>T , CM000673.2:g.2166782C>T	GRCh38
NC_000011.9:g.2188012C>T , CM000673.1:g.2188012C>T	GRCh37
NC_000011.8:g.2144588C>T	NCBI36
NG_008128.1:g.10024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.842-14G>A MANE Select	ENSP00000325951.4:n.842-14G>A
ENST00000324155.8:c.*531-14G>A	ENSP00000325831.3:n.*531-14G>A
ENST00000333684.9:c.696-233G>A	ENSP00000328814.6:n.696-233G>A
ENST00000352909.7:c.842-14G>A	ENSP00000325951.3:n.842-14G>A
ENST00000381168.7:c.*562-14G>A	ENSP00000370560.3:n.*562-14G>A
ENST00000381175.5:c.923-14G>A	ENSP00000370567.1:n.923-14G>A
ENST00000381178.5:c.935-14G>A	ENSP00000370571.1:n.935-14G>A
ENST00000412076.1:c.136-233G>A
ENST00000416223.5:c.136-14G>A
ENST00000479437.5:n.391-14G>A
NM_000360.3:c.842-14G>A	NP_000351.2:n.842-14G>A
NM_199292.2:c.935-14G>A	NP_954986.2:n.935-14G>A
NM_199293.2:c.923-14G>A	NP_954987.2:n.923-14G>A
XM_011520335.1:c.854-14G>A	XP_011518637.1:n.854-14G>A
XM_011520335.2:c.854-14G>A	XP_011518637.1:n.854-14G>A
NM_000360.4:c.842-14G>A MANE Select	NP_000351.2:n.842-14G>A
NM_199292.3:c.935-14G>A	NP_954986.2:n.935-14G>A
NM_199293.3:c.923-14G>A	NP_954987.2:n.923-14G>A