Canonical Allele Identifier: CA216284728

Gene: TH

Linked Data

• ClinVar Variation Id: 990004
• ClinVar RCV Id: RCV001277925
• dbSNP Id: rs75487597
• gnomAD v2: 11-2187785-C-T
• gnomAD v4: 11-2166555-C-T
• MyVariant Identifiers: chr11:g.2187785C>T (hg19) ; chr11:g.2166555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166555C>T , CM000673.2:g.2166555C>T	GRCh38
NC_000011.9:g.2187785C>T , CM000673.1:g.2187785C>T	GRCh37
NC_000011.8:g.2144361C>T	NCBI36
NG_008128.1:g.10251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.978-6G>A MANE Select	ENSP00000325951.4:n.978-6G>A
ENST00000324155.8:c.*667-6G>A	ENSP00000325831.3:n.*667-6G>A
ENST00000333684.9:c.696-6G>A	ENSP00000328814.6:n.696-6G>A
ENST00000352909.7:c.978-6G>A	ENSP00000325951.3:n.978-6G>A
ENST00000381168.7:c.*698-6G>A	ENSP00000370560.3:n.*698-6G>A
ENST00000381175.5:c.1059-6G>A	ENSP00000370567.1:n.1059-6G>A
ENST00000381178.5:c.1071-6G>A	ENSP00000370571.1:n.1071-6G>A
ENST00000412076.1:c.136-6G>A
ENST00000416223.5:c.272-6G>A
ENST00000461172.1:n.143-6G>A
ENST00000479437.5:n.527-6G>A
NM_000360.3:c.978-6G>A	NP_000351.2:n.978-6G>A
NM_199292.2:c.1071-6G>A	NP_954986.2:n.1071-6G>A
NM_199293.2:c.1059-6G>A	NP_954987.2:n.1059-6G>A
XM_011520335.1:c.990-6G>A	XP_011518637.1:n.990-6G>A
XM_011520335.2:c.990-6G>A	XP_011518637.1:n.990-6G>A
NM_000360.4:c.978-6G>A MANE Select	NP_000351.2:n.978-6G>A
NM_199292.3:c.1071-6G>A	NP_954986.2:n.1071-6G>A
NM_199293.3:c.1059-6G>A	NP_954987.2:n.1059-6G>A