Canonical Allele Identifier: CA472414350

Gene: TH

Linked Data

• ClinVar Variation Id: 1108912
• ClinVar RCV Id: RCV001434576
• dbSNP Id: rs1381505844
• gnomAD v2: 11-2188202-C-G
• gnomAD v4: 11-2166972-C-G
• MyVariant Identifiers: chr11:g.2188202C>G (hg19) ; chr11:g.2166972C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166972C>G , CM000673.2:g.2166972C>G	GRCh38
NC_000011.9:g.2188202C>G , CM000673.1:g.2188202C>G	GRCh37
NC_000011.8:g.2144778C>G	NCBI36
NG_008128.1:g.9834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.756G>C MANE Select	ENSP00000325951.4:p.Leu252=
ENST00000324155.8:c.*445G>C	ENSP00000325831.3:n.*445G>C
ENST00000333684.9:c.696-423G>C	ENSP00000328814.6:n.696-423G>C
ENST00000352909.7:c.756G>C	ENSP00000325951.3:p.Leu252=
ENST00000381168.7:c.*476G>C	ENSP00000370560.3:n.*476G>C
ENST00000381175.5:c.837G>C	ENSP00000370567.1:p.Leu279=
ENST00000381178.5:c.849G>C	ENSP00000370571.1:p.Leu283=
ENST00000412076.1:c.136-423G>C
ENST00000416223.5:c.136-204G>C
ENST00000469226.1:n.885G>C
ENST00000479437.5:n.305G>C
NM_000360.3:c.756G>C	NP_000351.2:p.Leu252=
NM_199292.2:c.849G>C	NP_954986.2:p.Leu283=
NM_199293.2:c.837G>C	NP_954987.2:p.Leu279=
XM_011520335.1:c.768G>C	XP_011518637.1:p.Leu256=
XM_011520335.2:c.768G>C	XP_011518637.1:p.Leu256=
NM_000360.4:c.756G>C MANE Select	NP_000351.2:p.Leu252=
NM_199292.3:c.849G>C	NP_954986.2:p.Leu283=
NM_199293.3:c.837G>C	NP_954987.2:p.Leu279=