Canonical Allele Identifier: CA912973340
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840505_102840506del , CM000674.2:g.102840505_102840506del GRCh38
NC_000012.11:g.103234283_103234284del , CM000674.1:g.103234283_103234284del GRCh37
NC_000012.10:g.101758413_101758414del NCBI36
NG_008690.1:g.82097_82098del
NG_008690.2:g.122905_122906del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1209_1210del MANE Select ENSP00000448059.1:p.Ala404HisfsTer18
ENST00000307000.7:c.1194_1195del ENSP00000303500.2:p.Ala399HisfsTer18
ENST00000551114.2:n.871_872del
ENST00000553106.5:c.1209_1210del ENSP00000448059.1:p.Ala404HisfsTer18
ENST00000635477.1:c.313_314del
ENST00000635528.1:n.724_725del
NM_000277.1:c.1209_1210del NP_000268.1:p.Ala404HisfsTer18
XM_011538422.1:c.1152_1153del XP_011536724.1:p.Ala385HisfsTer18
NM_000277.2:c.1209_1210del NP_000268.1:p.Ala404HisfsTer18
NM_001354304.1:c.1209_1210del NP_001341233.1:p.Ala404HisfsTer18
NM_000277.3:c.1209_1210del MANE Select NP_000268.1:p.Ala404HisfsTer18
NM_001354304.2:c.1209_1210del NP_001341233.1:p.Ala404HisfsTer18