Canonical Allele Identifier: CA16020973
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932279
ClinVar RCV Id: RCV001200016
dbSNP Id: rs1874543567

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840487A>T , CM000674.2:g.102840487A>T GRCh38
NC_000012.11:g.103234265A>T , CM000674.1:g.103234265A>T GRCh37
NC_000012.10:g.101758395A>T NCBI36
NG_008690.1:g.82116T>A
NG_008690.2:g.122924T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1228T>A MANE Select ENSP00000448059.1:p.Phe410Ile
ENST00000307000.7:c.1213T>A ENSP00000303500.2:p.Phe405Ile
ENST00000551114.2:n.890T>A
ENST00000553106.5:c.1228T>A ENSP00000448059.1:p.Phe410Ile
ENST00000635477.1:c.332T>A
ENST00000635528.1:n.743T>A
NM_000277.1:c.1228T>A NP_000268.1:p.Phe410Ile
XM_011538422.1:c.1171T>A XP_011536724.1:p.Phe391Ile
NM_000277.2:c.1228T>A NP_000268.1:p.Phe410Ile
NM_001354304.1:c.1228T>A NP_001341233.1:p.Phe410Ile
NM_000277.3:c.1228T>A MANE Select NP_000268.1:p.Phe410Ile
NM_001354304.2:c.1228T>A NP_001341233.1:p.Phe410Ile