Canonical Allele Identifier: CA229637
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102745
ClinVar RCV Id: RCV000088994
dbSNP Id: rs63083561

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855231_102855253del , CM000674.2:g.102855231_102855253del GRCh38
NC_000012.11:g.103249009_103249031del , CM000674.1:g.103249009_103249031del GRCh37
NC_000012.10:g.101773139_101773161del NCBI36
NG_008690.1:g.67351_67373del
NG_008690.2:g.108159_108181del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.590_612del MANE Select ENSP00000448059.1:p.Leu197Ter
ENST00000307000.7:c.575_597del ENSP00000303500.2:p.Leu192Ter
ENST00000549111.5:n.686_708del
ENST00000553106.5:c.590_612del ENSP00000448059.1:p.Leu197Ter
NM_000277.1:c.590_612del NP_000268.1:p.Leu197Ter
XM_011538422.1:c.590_612del XP_011536724.1:p.Leu197Ter
NM_000277.2:c.590_612del NP_000268.1:p.Leu197Ter
NM_001354304.1:c.590_612del NP_001341233.1:p.Leu197Ter
XM_017019370.2:c.590_612del XP_016874859.1:p.Leu197Ter
NM_000277.3:c.590_612del MANE Select NP_000268.1:p.Leu197Ter
NM_001354304.2:c.590_612del NP_001341233.1:p.Leu197Ter