Canonical Allele Identifier: CA216284480

Gene: TH

Linked Data

• dbSNP Id: rs1023579466
• gnomAD v3: 11-2166422-C-T
• gnomAD v4: 11-2166422-C-T
• MyVariant Identifiers: chr11:g.2187652C>T (hg19) ; chr11:g.2166422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166422C>T , CM000673.2:g.2166422C>T	GRCh38
NC_000011.9:g.2187652C>T , CM000673.1:g.2187652C>T	GRCh37
NC_000011.8:g.2144228C>T	NCBI36
NG_008128.1:g.10384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1047+58G>A MANE Select	ENSP00000325951.4:n.1047+58G>A
ENST00000324155.8:c.*736+58G>A	ENSP00000325831.3:n.*736+58G>A
ENST00000333684.9:c.765+58G>A	ENSP00000328814.6:n.765+58G>A
ENST00000352909.7:c.1047+58G>A	ENSP00000325951.3:n.1047+58G>A
ENST00000381168.7:c.*767+58G>A	ENSP00000370560.3:n.*767+58G>A
ENST00000381175.5:c.1128+58G>A	ENSP00000370567.1:n.1128+58G>A
ENST00000381178.5:c.1140+58G>A	ENSP00000370571.1:n.1140+58G>A
ENST00000412076.1:c.205+58G>A
ENST00000416223.5:c.341+58G>A
ENST00000461172.1:n.270G>A
ENST00000479437.5:n.596+58G>A
NM_000360.3:c.1047+58G>A	NP_000351.2:n.1047+58G>A
NM_199292.2:c.1140+58G>A	NP_954986.2:n.1140+58G>A
NM_199293.2:c.1128+58G>A	NP_954987.2:n.1128+58G>A
XM_011520335.1:c.1059+58G>A	XP_011518637.1:n.1059+58G>A
XM_011520335.2:c.1059+58G>A	XP_011518637.1:n.1059+58G>A
NM_000360.4:c.1047+58G>A MANE Select	NP_000351.2:n.1047+58G>A
NM_199292.3:c.1140+58G>A	NP_954986.2:n.1140+58G>A
NM_199293.3:c.1128+58G>A	NP_954987.2:n.1128+58G>A