Canonical Allele Identifier: CA2059451242
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846889A= , CM000674.2:g.102846889A= GRCh38
NC_000012.11:g.103240667A= , CM000674.1:g.103240667A= GRCh37
NC_000012.10:g.101764797A= NCBI36
NG_008690.1:g.75714T=
NG_008690.2:g.116522T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+6T= MANE Select ENSP00000448059.1:n.969+6T=
ENST00000307000.7:c.954+6T= ENSP00000303500.2:n.954+6T=
ENST00000549247.6:n.728+6T=
ENST00000551114.2:n.631+6T=
ENST00000553106.5:c.969+6T= ENSP00000448059.1:n.969+6T=
ENST00000635477.1:c.74-2458T=
ENST00000635528.1:n.484+6T=
NM_000277.1:c.969+6T= NP_000268.1:n.969+6T=
XM_011538422.1:c.913-2458T= XP_011536724.1:n.913-2458T=
NM_000277.2:c.969+6T= NP_000268.1:n.969+6T=
NM_001354304.1:c.969+6T= NP_001341233.1:n.969+6T=
NM_000277.3:c.969+6T= MANE Select NP_000268.1:n.969+6T=
NM_001354304.2:c.969+6T= NP_001341233.1:n.969+6T=