Canonical Allele Identifier: CA216285510

Gene: TH

Linked Data

• dbSNP Id: rs978552119
• gnomAD v3: 11-2166973-A-C
• gnomAD v4: 11-2166973-A-C
• MyVariant Identifiers: chr11:g.2188203A>C (hg19) ; chr11:g.2166973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166973A>C , CM000673.2:g.2166973A>C	GRCh38
NC_000011.9:g.2188203A>C , CM000673.1:g.2188203A>C	GRCh37
NC_000011.8:g.2144779A>C	NCBI36
NG_008128.1:g.9833T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.755T>G MANE Select	ENSP00000325951.4:p.Leu252Arg
ENST00000324155.8:c.*444T>G	ENSP00000325831.3:n.*444T>G
ENST00000333684.9:c.696-424T>G	ENSP00000328814.6:n.696-424T>G
ENST00000352909.7:c.755T>G	ENSP00000325951.3:p.Leu252Arg
ENST00000381168.7:c.*475T>G	ENSP00000370560.3:n.*475T>G
ENST00000381175.5:c.836T>G	ENSP00000370567.1:p.Leu279Arg
ENST00000381178.5:c.848T>G	ENSP00000370571.1:p.Leu283Arg
ENST00000412076.1:c.136-424T>G
ENST00000416223.5:c.136-205T>G
ENST00000469226.1:n.884T>G
ENST00000479437.5:n.304T>G
NM_000360.3:c.755T>G	NP_000351.2:p.Leu252Arg
NM_199292.2:c.848T>G	NP_954986.2:p.Leu283Arg
NM_199293.2:c.836T>G	NP_954987.2:p.Leu279Arg
XM_011520335.1:c.767T>G	XP_011518637.1:p.Leu256Arg
XM_011520335.2:c.767T>G	XP_011518637.1:p.Leu256Arg
NM_000360.4:c.755T>G MANE Select	NP_000351.2:p.Leu252Arg
NM_199292.3:c.848T>G	NP_954986.2:p.Leu283Arg
NM_199293.3:c.836T>G	NP_954987.2:p.Leu279Arg