Canonical Allele Identifier: CA379126837

Gene: TH

Linked Data

• ClinVar Variation Id: 2808963
• ClinVar RCV Id: RCV003625150
• gnomAD v4: 11-2166963-A-C
• MyVariant Identifiers: chr11:g.2188193A>C (hg19) ; chr11:g.2166963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166963A>C , CM000673.2:g.2166963A>C	GRCh38
NC_000011.9:g.2188193A>C , CM000673.1:g.2188193A>C	GRCh37
NC_000011.8:g.2144769A>C	NCBI36
NG_008128.1:g.9843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.765T>G MANE Select	ENSP00000325951.4:p.Phe255Leu
ENST00000324155.8:c.*454T>G	ENSP00000325831.3:n.*454T>G
ENST00000333684.9:c.696-414T>G	ENSP00000328814.6:n.696-414T>G
ENST00000352909.7:c.765T>G	ENSP00000325951.3:p.Phe255Leu
ENST00000381168.7:c.*485T>G	ENSP00000370560.3:n.*485T>G
ENST00000381175.5:c.846T>G	ENSP00000370567.1:p.Phe282Leu
ENST00000381178.5:c.858T>G	ENSP00000370571.1:p.Phe286Leu
ENST00000412076.1:c.136-414T>G
ENST00000416223.5:c.136-195T>G
ENST00000469226.1:n.894T>G
ENST00000479437.5:n.314T>G
NM_000360.3:c.765T>G	NP_000351.2:p.Phe255Leu
NM_199292.2:c.858T>G	NP_954986.2:p.Phe286Leu
NM_199293.2:c.846T>G	NP_954987.2:p.Phe282Leu
XM_011520335.1:c.777T>G	XP_011518637.1:p.Phe259Leu
XM_011520335.2:c.777T>G	XP_011518637.1:p.Phe259Leu
NM_000360.4:c.765T>G MANE Select	NP_000351.2:p.Phe255Leu
NM_199292.3:c.858T>G	NP_954986.2:p.Phe286Leu
NM_199293.3:c.846T>G	NP_954987.2:p.Phe282Leu