Canonical Allele Identifier: CA379126179

Gene: TH

Linked Data

• gnomAD v4: 11-2166675-T-C
• MyVariant Identifiers: chr11:g.2187905T>C (hg19) ; chr11:g.2166675T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166675T>C , CM000673.2:g.2166675T>C	GRCh38
NC_000011.9:g.2187905T>C , CM000673.1:g.2187905T>C	GRCh37
NC_000011.8:g.2144481T>C	NCBI36
NG_008128.1:g.10131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.935A>G MANE Select	ENSP00000325951.4:p.Gln312Arg
ENST00000324155.8:c.*624A>G	ENSP00000325831.3:n.*624A>G
ENST00000333684.9:c.696-126A>G	ENSP00000328814.6:n.696-126A>G
ENST00000352909.7:c.935A>G	ENSP00000325951.3:p.Gln312Arg
ENST00000381168.7:c.*655A>G	ENSP00000370560.3:n.*655A>G
ENST00000381175.5:c.1016A>G	ENSP00000370567.1:p.Gln339Arg
ENST00000381178.5:c.1028A>G	ENSP00000370571.1:p.Gln343Arg
ENST00000412076.1:c.136-126A>G
ENST00000416223.5:c.229A>G
ENST00000461172.1:n.100A>G
ENST00000479437.5:n.484A>G
NM_000360.3:c.935A>G	NP_000351.2:p.Gln312Arg
NM_199292.2:c.1028A>G	NP_954986.2:p.Gln343Arg
NM_199293.2:c.1016A>G	NP_954987.2:p.Gln339Arg
XM_011520335.1:c.947A>G	XP_011518637.1:p.Gln316Arg
XM_011520335.2:c.947A>G	XP_011518637.1:p.Gln316Arg
NM_000360.4:c.935A>G MANE Select	NP_000351.2:p.Gln312Arg
NM_199292.3:c.1028A>G	NP_954986.2:p.Gln343Arg
NM_199293.3:c.1016A>G	NP_954987.2:p.Gln339Arg