Canonical Allele Identifier: CA229368
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102543
dbSNP Id: rs62506949

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843679del , CM000674.2:g.102843679del GRCh38
NC_000012.11:g.103237457del , CM000674.1:g.103237457del GRCh37
NC_000012.10:g.101761587del NCBI36
NG_008690.1:g.78924del
NG_008690.2:g.119732del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1166del MANE Select ENSP00000448059.1:p.Ala389GlufsTer11
ENST00000307000.7:c.1151del ENSP00000303500.2:p.Ala384GlufsTer11
ENST00000549247.6:n.925del
ENST00000551114.2:n.828del
ENST00000553106.5:c.1166del ENSP00000448059.1:p.Ala389GlufsTer11
ENST00000635477.1:c.270del
ENST00000635528.1:n.681del
NM_000277.1:c.1166del NP_000268.1:p.Ala389GlufsTer11
XM_011538422.1:c.1109del XP_011536724.1:p.Ala370GlufsTer11
NM_000277.2:c.1166del NP_000268.1:p.Ala389GlufsTer11
NM_001354304.1:c.1166del NP_001341233.1:p.Ala389GlufsTer11
NM_000277.3:c.1166del MANE Select NP_000268.1:p.Ala389GlufsTer11
NM_001354304.2:c.1166del NP_001341233.1:p.Ala389GlufsTer11