Canonical Allele Identifier: CA379125954

Gene: TH

Linked Data

• ClinVar Variation Id: 1913004
• ClinVar RCV Id: RCV002593546
• dbSNP Id: rs763198914
• gnomAD v2: 11-2187725-G-C
• gnomAD v4: 11-2166495-G-C
• MyVariant Identifiers: chr11:g.2187725G>C (hg19) ; chr11:g.2166495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166495G>C , CM000673.2:g.2166495G>C	GRCh38
NC_000011.9:g.2187725G>C , CM000673.1:g.2187725G>C	GRCh37
NC_000011.8:g.2144301G>C	NCBI36
NG_008128.1:g.10311C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1032C>G MANE Select	ENSP00000325951.4:p.Phe344Leu
ENST00000324155.8:c.*721C>G	ENSP00000325831.3:n.*721C>G
ENST00000333684.9:c.750C>G	ENSP00000328814.6:p.Phe250Leu
ENST00000352909.7:c.1032C>G	ENSP00000325951.3:p.Phe344Leu
ENST00000381168.7:c.*752C>G	ENSP00000370560.3:n.*752C>G
ENST00000381175.5:c.1113C>G	ENSP00000370567.1:p.Phe371Leu
ENST00000381178.5:c.1125C>G	ENSP00000370571.1:p.Phe375Leu
ENST00000412076.1:c.190C>G
ENST00000416223.5:c.326C>G
ENST00000461172.1:n.197C>G
ENST00000479437.5:n.581C>G
NM_000360.3:c.1032C>G	NP_000351.2:p.Phe344Leu
NM_199292.2:c.1125C>G	NP_954986.2:p.Phe375Leu
NM_199293.2:c.1113C>G	NP_954987.2:p.Phe371Leu
XM_011520335.1:c.1044C>G	XP_011518637.1:p.Phe348Leu
XM_011520335.2:c.1044C>G	XP_011518637.1:p.Phe348Leu
NM_000360.4:c.1032C>G MANE Select	NP_000351.2:p.Phe344Leu
NM_199292.3:c.1125C>G	NP_954986.2:p.Phe375Leu
NM_199293.3:c.1113C>G	NP_954987.2:p.Phe371Leu