Canonical Allele Identifier: CA379127487

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188705T>C (hg19) ; chr11:g.2167475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167475T>C , CM000673.2:g.2167475T>C	GRCh38
NC_000011.9:g.2188705T>C , CM000673.1:g.2188705T>C	GRCh37
NC_000011.8:g.2145281T>C	NCBI36
NG_008128.1:g.9331A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.655A>G MANE Select	ENSP00000325951.4:p.Ile219Val
ENST00000324155.8:c.*344A>G	ENSP00000325831.3:n.*344A>G
ENST00000333684.9:c.655A>G	ENSP00000328814.6:p.Ile219Val
ENST00000352909.7:c.655A>G	ENSP00000325951.3:p.Ile219Val
ENST00000381168.7:c.*375A>G	ENSP00000370560.3:n.*375A>G
ENST00000381175.5:c.736A>G	ENSP00000370567.1:p.Ile246Val
ENST00000381178.5:c.748A>G	ENSP00000370571.1:p.Ile250Val
ENST00000412076.1:c.95A>G
ENST00000416223.5:c.95A>G
ENST00000469226.1:n.784A>G
NM_000360.3:c.655A>G	NP_000351.2:p.Ile219Val
NM_199292.2:c.748A>G	NP_954986.2:p.Ile250Val
NM_199293.2:c.736A>G	NP_954987.2:p.Ile246Val
XM_011520335.1:c.667A>G	XP_011518637.1:p.Ile223Val
XM_011520335.2:c.667A>G	XP_011518637.1:p.Ile223Val
NM_000360.4:c.655A>G MANE Select	NP_000351.2:p.Ile219Val
NM_199292.3:c.748A>G	NP_954986.2:p.Ile250Val
NM_199293.3:c.736A>G	NP_954987.2:p.Ile246Val