Canonical Allele Identifier: CA2726968569
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136645888

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852765del , CM000674.2:g.102852765del GRCh38
NC_000012.11:g.103246543del , CM000674.1:g.103246543del GRCh37
NC_000012.10:g.101770673del NCBI36
NG_008690.1:g.69841del
NG_008690.2:g.110649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+53del MANE Select ENSP00000448059.1:n.842+53del
ENST00000307000.7:c.827+53del ENSP00000303500.2:n.827+53del
ENST00000549247.6:n.601+53del
ENST00000553106.5:c.842+53del ENSP00000448059.1:n.842+53del
ENST00000635477.1:c.3+53del
NM_000277.1:c.842+53del NP_000268.1:n.842+53del
XM_011538422.1:c.842+53del XP_011536724.1:n.842+53del
NM_000277.2:c.842+53del NP_000268.1:n.842+53del
NM_001354304.1:c.842+53del NP_001341233.1:n.842+53del
NM_000277.3:c.842+53del MANE Select NP_000268.1:n.842+53del
NM_001354304.2:c.842+53del NP_001341233.1:n.842+53del