Canonical Allele Identifier: CA16020844
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1327558
ClinVar RCV Id: RCV001789820
dbSNP Id: rs62517208

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855143G>C , CM000674.2:g.102855143G>C GRCh38
NC_000012.11:g.103248921G>C , CM000674.1:g.103248921G>C GRCh37
NC_000012.10:g.101773051G>C NCBI36
NG_008690.1:g.67460C>G
NG_008690.2:g.108268C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.699C>G MANE Select ENSP00000448059.1:p.Phe233Leu
ENST00000307000.7:c.684C>G ENSP00000303500.2:p.Phe228Leu
ENST00000549111.5:n.795C>G
ENST00000553106.5:c.699C>G ENSP00000448059.1:p.Phe233Leu
NM_000277.1:c.699C>G NP_000268.1:p.Phe233Leu
XM_011538422.1:c.699C>G XP_011536724.1:p.Phe233Leu
NM_000277.2:c.699C>G NP_000268.1:p.Phe233Leu
NM_001354304.1:c.699C>G NP_001341233.1:p.Phe233Leu
XM_017019370.2:c.699C>G XP_016874859.1:p.Phe233Leu
NM_000277.3:c.699C>G MANE Select NP_000268.1:p.Phe233Leu
NM_001354304.2:c.699C>G NP_001341233.1:p.Phe233Leu