Canonical Allele Identifier: CA472019154

Gene: TH

Linked Data

• dbSNP Id: rs1590173655
• MyVariant Identifiers: chr11:g.2192987_2192990del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171757_2171760del , CM000673.2:g.2171757_2171760del	GRCh38
NC_000011.9:g.2192987_2192990del , CM000673.1:g.2192987_2192990del	GRCh37
NC_000011.8:g.2149563_2149566del	NCBI36
NG_008128.1:g.5046_5049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.27_30del MANE Select	ENSP00000325951.4:p.Gln10ProfsTer?
ENST00000324155.8:c.27_30del	ENSP00000325831.3:p.Gln10ProfsTer?
ENST00000333684.9:c.27_30del	ENSP00000328814.6:p.Gln10ProfsTer?
ENST00000352909.7:c.27_30del	ENSP00000325951.3:p.Gln10ProfsTer?
ENST00000381168.7:c.27_30del	ENSP00000370560.3:p.Gln10ProfsTer21
ENST00000381175.5:c.27_30del	ENSP00000370567.1:p.Gln10ProfsTer?
ENST00000381178.5:c.27_30del	ENSP00000370571.1:p.Gln10ProfsTer21
NM_000360.3:c.27_30del	NP_000351.2:p.Gln10ProfsTer?
NM_199292.2:c.27_30del	NP_954986.2:p.Gln10ProfsTer21
NM_199293.2:c.27_30del	NP_954987.2:p.Gln10ProfsTer?
XM_011520335.1:c.27_30del	XP_011518637.1:p.Gln10ProfsTer21
XM_011520335.2:c.27_30del	XP_011518637.1:p.Gln10ProfsTer21
NM_000360.4:c.27_30del MANE Select	NP_000351.2:p.Gln10ProfsTer?
NM_199292.3:c.27_30del	NP_954986.2:p.Gln10ProfsTer21
NM_199293.3:c.27_30del	NP_954987.2:p.Gln10ProfsTer?