Canonical Allele Identifier: CA229695
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102787
dbSNP Id: rs62508577

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855150G>A , CM000674.2:g.102855150G>A GRCh38
NC_000012.11:g.103248928G>A , CM000674.1:g.103248928G>A GRCh37
NC_000012.10:g.101773058G>A NCBI36
NG_008690.1:g.67453C>T
NG_008690.2:g.108261C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.692C>T MANE Select ENSP00000448059.1:p.Ser231Phe
ENST00000307000.7:c.677C>T ENSP00000303500.2:p.Ser226Phe
ENST00000549111.5:n.788C>T
ENST00000553106.5:c.692C>T ENSP00000448059.1:p.Ser231Phe
NM_000277.1:c.692C>T NP_000268.1:p.Ser231Phe
XM_011538422.1:c.692C>T XP_011536724.1:p.Ser231Phe
NM_000277.2:c.692C>T NP_000268.1:p.Ser231Phe
NM_001354304.1:c.692C>T NP_001341233.1:p.Ser231Phe
XM_017019370.2:c.692C>T XP_016874859.1:p.Ser231Phe
NM_000277.3:c.692C>T MANE Select NP_000268.1:p.Ser231Phe
NM_001354304.2:c.692C>T NP_001341233.1:p.Ser231Phe