Canonical Allele Identifier: CA242471475
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs761898042

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852725_102852739del , CM000674.2:g.102852725_102852739del GRCh38
NC_000012.11:g.103246503_103246517del , CM000674.1:g.103246503_103246517del GRCh37
NC_000012.10:g.101770633_101770647del NCBI36
NG_008690.1:g.69867_69881del
NG_008690.2:g.110675_110689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+79_842+93del MANE Select ENSP00000448059.1:n.842+79_842+93del
ENST00000307000.7:c.827+79_827+93del ENSP00000303500.2:n.827+79_827+93del
ENST00000549247.6:n.601+79_601+93del
ENST00000553106.5:c.842+79_842+93del ENSP00000448059.1:n.842+79_842+93del
ENST00000635477.1:c.3+79_3+93del
NM_000277.1:c.842+79_842+93del NP_000268.1:n.842+79_842+93del
XM_011538422.1:c.842+79_842+93del XP_011536724.1:n.842+79_842+93del
NM_000277.2:c.842+79_842+93del NP_000268.1:n.842+79_842+93del
NM_001354304.1:c.842+79_842+93del NP_001341233.1:n.842+79_842+93del
NM_000277.3:c.842+79_842+93del MANE Select NP_000268.1:n.842+79_842+93del
NM_001354304.2:c.842+79_842+93del NP_001341233.1:n.842+79_842+93del