Canonical Allele Identifier: CA379126669

Gene: TH

Linked Data

• dbSNP Id: rs1057524283
• gnomAD v3: 11-2166929-C-T
• gnomAD v4: 11-2166929-C-T
• MyVariant Identifiers: chr11:g.2188159C>T (hg19) ; chr11:g.2166929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166929C>T , CM000673.2:g.2166929C>T	GRCh38
NC_000011.9:g.2188159C>T , CM000673.1:g.2188159C>T	GRCh37
NC_000011.8:g.2144735C>T	NCBI36
NG_008128.1:g.9877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.799G>A MANE Select	ENSP00000325951.4:p.Asp267Asn
ENST00000324155.8:c.*488G>A	ENSP00000325831.3:n.*488G>A
ENST00000333684.9:c.696-380G>A	ENSP00000328814.6:n.696-380G>A
ENST00000352909.7:c.799G>A	ENSP00000325951.3:p.Asp267Asn
ENST00000381168.7:c.*519G>A	ENSP00000370560.3:n.*519G>A
ENST00000381175.5:c.880G>A	ENSP00000370567.1:p.Asp294Asn
ENST00000381178.5:c.892G>A	ENSP00000370571.1:p.Asp298Asn
ENST00000412076.1:c.136-380G>A
ENST00000416223.5:c.136-161G>A
ENST00000469226.1:n.928G>A
ENST00000479437.5:n.348G>A
NM_000360.3:c.799G>A	NP_000351.2:p.Asp267Asn
NM_199292.2:c.892G>A	NP_954986.2:p.Asp298Asn
NM_199293.2:c.880G>A	NP_954987.2:p.Asp294Asn
XM_011520335.1:c.811G>A	XP_011518637.1:p.Asp271Asn
XM_011520335.2:c.811G>A	XP_011518637.1:p.Asp271Asn
NM_000360.4:c.799G>A MANE Select	NP_000351.2:p.Asp267Asn
NM_199292.3:c.892G>A	NP_954986.2:p.Asp298Asn
NM_199293.3:c.880G>A	NP_954987.2:p.Asp294Asn