Canonical Allele Identifier: CA2059450859
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846457G= , CM000674.2:g.102846457G= GRCh38
NC_000012.11:g.103240235G= , CM000674.1:g.103240235G= GRCh37
NC_000012.10:g.101764365G= NCBI36
NG_008690.1:g.76146C=
NG_008690.2:g.116954C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+438C= MANE Select ENSP00000448059.1:n.969+438C=
ENST00000307000.7:c.954+438C= ENSP00000303500.2:n.954+438C=
ENST00000549247.6:n.728+438C=
ENST00000551114.2:n.631+438C=
ENST00000553106.5:c.969+438C= ENSP00000448059.1:n.969+438C=
ENST00000635477.1:c.74-2026C=
ENST00000635528.1:n.484+438C=
NM_000277.1:c.969+438C= NP_000268.1:n.969+438C=
XM_011538422.1:c.913-2026C= XP_011536724.1:n.913-2026C=
NM_000277.2:c.969+438C= NP_000268.1:n.969+438C=
NM_001354304.1:c.969+438C= NP_001341233.1:n.969+438C=
NM_000277.3:c.969+438C= MANE Select NP_000268.1:n.969+438C=
NM_001354304.2:c.969+438C= NP_001341233.1:n.969+438C=
Search 100 bp 5'
Search 100 bp 3'