Canonical Allele Identifier: CA2059446873
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853029G= , CM000674.2:g.102853029G= GRCh38
NC_000012.11:g.103246807G= , CM000674.1:g.103246807G= GRCh37
NC_000012.10:g.101770937G= NCBI36
NG_008690.1:g.69574C=
NG_008690.2:g.110382C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-79C= MANE Select ENSP00000448059.1:n.707-79C=
ENST00000307000.7:c.692-79C= ENSP00000303500.2:n.692-79C=
ENST00000549247.6:n.387C=
ENST00000553106.5:c.707-79C= ENSP00000448059.1:n.707-79C=
NM_000277.1:c.707-79C= NP_000268.1:n.707-79C=
XM_011538422.1:c.707-79C= XP_011536724.1:n.707-79C=
NM_000277.2:c.707-79C= NP_000268.1:n.707-79C=
NM_001354304.1:c.707-79C= NP_001341233.1:n.707-79C=
NM_000277.3:c.707-79C= MANE Select NP_000268.1:n.707-79C=
NM_001354304.2:c.707-79C= NP_001341233.1:n.707-79C=
Search 100 bp 5'
Search 100 bp 3'