Canonical Allele Identifier: CA379127178

Gene: TH

Linked Data

• gnomAD v4: 11-2167030-T-C
• MyVariant Identifiers: chr11:g.2188260T>C (hg19) ; chr11:g.2167030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167030T>C , CM000673.2:g.2167030T>C	GRCh38
NC_000011.9:g.2188260T>C , CM000673.1:g.2188260T>C	GRCh37
NC_000011.8:g.2144836T>C	NCBI36
NG_008128.1:g.9776A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.698A>G MANE Select	ENSP00000325951.4:p.Lys233Arg
ENST00000324155.8:c.*387A>G	ENSP00000325831.3:n.*387A>G
ENST00000333684.9:c.695+405A>G	ENSP00000328814.6:n.695+405A>G
ENST00000352909.7:c.698A>G	ENSP00000325951.3:p.Lys233Arg
ENST00000381168.7:c.*418A>G	ENSP00000370560.3:n.*418A>G
ENST00000381175.5:c.779A>G	ENSP00000370567.1:p.Lys260Arg
ENST00000381178.5:c.791A>G	ENSP00000370571.1:p.Lys264Arg
ENST00000412076.1:c.135+405A>G
ENST00000416223.5:c.136-262A>G
ENST00000469226.1:n.827A>G
ENST00000479437.5:n.247A>G
NM_000360.3:c.698A>G	NP_000351.2:p.Lys233Arg
NM_199292.2:c.791A>G	NP_954986.2:p.Lys264Arg
NM_199293.2:c.779A>G	NP_954987.2:p.Lys260Arg
XM_011520335.1:c.710A>G	XP_011518637.1:p.Lys237Arg
XM_011520335.2:c.710A>G	XP_011518637.1:p.Lys237Arg
NM_000360.4:c.698A>G MANE Select	NP_000351.2:p.Lys233Arg
NM_199292.3:c.791A>G	NP_954986.2:p.Lys264Arg
NM_199293.3:c.779A>G	NP_954987.2:p.Lys260Arg