Canonical Allele Identifier: CA2499221400

Gene: PAH

Linked Data

• ClinVar Variation Id: 1162202
• ClinVar RCV Id: RCV001506975
• dbSNP Id: rs2136646052

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852826_102852827insG , CM000674.2:g.102852826_102852827insG	GRCh38
NC_000012.11:g.103246604_103246605insG , CM000674.1:g.103246604_103246605insG	GRCh37
NC_000012.10:g.101770734_101770735insG	NCBI36
NG_008690.1:g.69776_69777insC
NG_008690.2:g.110584_110585insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.830_831insC MANE Select	ENSP00000448059.1:p.Thr278TyrfsTer5
ENST00000307000.7:c.815_816insC	ENSP00000303500.2:p.Thr273TyrfsTer5
ENST00000549247.6:n.589_590insC
ENST00000553106.5:c.830_831insC	ENSP00000448059.1:p.Thr278TyrfsTer5
NM_000277.1:c.830_831insC	NP_000268.1:p.Thr278TyrfsTer5
XM_011538422.1:c.830_831insC	XP_011536724.1:p.Thr278TyrfsTer5
NM_000277.2:c.830_831insC	NP_000268.1:p.Thr278TyrfsTer5
NM_001354304.1:c.830_831insC	NP_001341233.1:p.Thr278TyrfsTer5
NM_000277.3:c.830_831insC MANE Select	NP_000268.1:p.Thr278TyrfsTer5
NM_001354304.2:c.830_831insC	NP_001341233.1:p.Thr278TyrfsTer5