Canonical Allele Identifier: CA2059446685
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852934_102852935delinsGC , CM000674.2:g.102852934_102852935delinsGC GRCh38
NC_000012.11:g.103246712_103246713delinsGC , CM000674.1:g.103246712_103246713delinsGC GRCh37
NC_000012.10:g.101770842_101770843delinsGC NCBI36
NG_008690.1:g.69668_69669delinsGC
NG_008690.2:g.110476_110477delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.722_723delinsGC MANE Select ENSP00000448059.1:p.Arg241=
ENST00000307000.7:c.707_708delinsGC ENSP00000303500.2:p.Arg236=
ENST00000549247.6:n.481_482delinsGC
ENST00000553106.5:c.722_723delinsGC ENSP00000448059.1:p.Arg241=
NM_000277.1:c.722_723delinsGC NP_000268.1:p.Arg241=
XM_011538422.1:c.722_723delinsGC XP_011536724.1:p.Arg241=
NM_000277.2:c.722_723delinsGC NP_000268.1:p.Arg241=
NM_001354304.1:c.722_723delinsGC NP_001341233.1:p.Arg241=
NM_000277.3:c.722_723delinsGC MANE Select NP_000268.1:p.Arg241=
NM_001354304.2:c.722_723delinsGC NP_001341233.1:p.Arg241=