Canonical Allele Identifier: CA16020759
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 805816
ClinVar RCV Id: RCV000993633
dbSNP Id: rs1592978760
ERepo: CA16020759/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894820_102894821insC , CM000674.2:g.102894820_102894821insC GRCh38
NC_000012.11:g.103288598_103288599insC , CM000674.1:g.103288598_103288599insC GRCh37
NC_000012.10:g.101812728_101812729insC NCBI36
NG_008690.1:g.27782_27783insG
NG_008690.2:g.68590_68591insG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.266_267insG MANE Select ENSP00000448059.1:p.Ala90CysfsTer12
ENST00000307000.7:c.251_252insG ENSP00000303500.2:p.Ala85CysfsTer12
ENST00000546844.1:c.266_267insG ENSP00000446658.1:p.Ala90CysfsTer12
ENST00000548677.2:n.353_354insG
ENST00000548928.1:n.188_189insG
ENST00000549111.5:n.362_363insG
ENST00000550978.6:c.250_251insG
ENST00000551337.5:c.266_267insG ENSP00000447620.1:p.Ala90CysfsTer12
ENST00000551988.5:n.355_356insG
ENST00000553106.5:c.266_267insG ENSP00000448059.1:p.Ala90CysfsTer12
NM_000277.1:c.266_267insG NP_000268.1:p.Ala90CysfsTer12
XM_011538422.1:c.266_267insG XP_011536724.1:p.Ala90CysfsTer12
NM_000277.2:c.266_267insG NP_000268.1:p.Ala90CysfsTer12
NM_001354304.1:c.266_267insG NP_001341233.1:p.Ala90CysfsTer12
XM_017019370.2:c.266_267insG XP_016874859.1:p.Ala90CysfsTer12
NM_000277.3:c.266_267insG MANE Select NP_000268.1:p.Ala90CysfsTer12
NM_001354304.2:c.266_267insG NP_001341233.1:p.Ala90CysfsTer12
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