Canonical Allele Identifier: CA2620526537
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2718039
ClinVar RCV Id: RCV003496859

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839235C>T , CM000674.2:g.102839235C>T GRCh38
NC_000012.11:g.103233013C>T , CM000674.1:g.103233013C>T GRCh37
NC_000012.10:g.101757143C>T NCBI36
NG_008690.1:g.83368G>A
NG_008690.2:g.124176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316-17G>A MANE Select ENSP00000448059.1:n.1316-17G>A
ENST00000307000.7:c.1301-17G>A ENSP00000303500.2:n.1301-17G>A
ENST00000551114.2:n.978-17G>A
ENST00000553106.5:c.1316-17G>A ENSP00000448059.1:n.1316-17G>A
ENST00000635477.1:c.420-17G>A
ENST00000635528.1:n.831-17G>A
NM_000277.1:c.1316-17G>A NP_000268.1:n.1316-17G>A
XM_011538422.1:c.1259-17G>A XP_011536724.1:n.1259-17G>A
NM_000277.2:c.1316-17G>A NP_000268.1:n.1316-17G>A
NM_001354304.1:c.1316-17G>A NP_001341233.1:n.1316-17G>A
NM_000277.3:c.1316-17G>A MANE Select NP_000268.1:n.1316-17G>A
NM_001354304.2:c.1316-17G>A NP_001341233.1:n.1316-17G>A