Canonical Allele Identifier: CA229434
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102593
dbSNP Id: rs62509020

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839223A>G , CM000674.2:g.102839223A>G GRCh38
NC_000012.11:g.103233001A>G , CM000674.1:g.103233001A>G GRCh37
NC_000012.10:g.101757131A>G NCBI36
NG_008690.1:g.83380T>C
NG_008690.2:g.124188T>C

Transcript Alleles

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