Canonical Allele Identifier: CA2620526535
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2778404
ClinVar RCV Id: RCV003598214

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839229A>G , CM000674.2:g.102839229A>G GRCh38
NC_000012.11:g.103233007A>G , CM000674.1:g.103233007A>G GRCh37
NC_000012.10:g.101757137A>G NCBI36
NG_008690.1:g.83374T>C
NG_008690.2:g.124182T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316-11T>C MANE Select ENSP00000448059.1:n.1316-11T>C
ENST00000307000.7:c.1301-11T>C ENSP00000303500.2:n.1301-11T>C
ENST00000551114.2:n.978-11T>C
ENST00000553106.5:c.1316-11T>C ENSP00000448059.1:n.1316-11T>C
ENST00000635477.1:c.420-11T>C
ENST00000635528.1:n.831-11T>C
NM_000277.1:c.1316-11T>C NP_000268.1:n.1316-11T>C
XM_011538422.1:c.1259-11T>C XP_011536724.1:n.1259-11T>C
NM_000277.2:c.1316-11T>C NP_000268.1:n.1316-11T>C
NM_001354304.1:c.1316-11T>C NP_001341233.1:n.1316-11T>C
NM_000277.3:c.1316-11T>C MANE Select NP_000268.1:n.1316-11T>C
NM_001354304.2:c.1316-11T>C NP_001341233.1:n.1316-11T>C