Canonical Allele Identifier: CA2059441438
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840399C= , CM000674.2:g.102840399C= GRCh38
NC_000012.11:g.103234177C= , CM000674.1:g.103234177C= GRCh37
NC_000012.10:g.101758307C= NCBI36
NG_008690.1:g.82204G=
NG_008690.2:g.123012G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+1G= MANE Select ENSP00000448059.1:p.=
ENST00000307000.7:c.1300+1G= ENSP00000303500.2:p.=
ENST00000551114.2:n.977+1G=
ENST00000553106.5:c.1315+1G= ENSP00000448059.1:p.=
ENST00000635477.1:n.419+1G=
ENST00000635528.1:n.830+1G=
NM_000277.1:c.1315+1G= NP_000268.1:p.=
XM_011538422.1:c.1258+1G= XP_011536724.1:p.=
NM_000277.2:c.1315+1G= NP_000268.1:p.=
NM_001354304.1:c.1315+1G= NP_001341233.1:p.=
NM_000277.3:c.1315+1G= MANE Select NP_000268.1:p.=
NM_001354304.2:c.1315+1G= NP_001341233.1:p.=