Canonical Allele Identifier: CA267639
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120266
ClinVar RCV Id: RCV000106347
dbSNP Id: rs281865438

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912795A>G , CM000674.2:g.102912795A>G GRCh38
NC_000012.11:g.103306573A>G , CM000674.1:g.103306573A>G GRCh37
NC_000012.10:g.101830703A>G NCBI36
NG_008690.1:g.9808T>C
NG_008690.2:g.50616T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.164T>C MANE Select ENSP00000448059.1:p.Phe55Ser
ENST00000307000.7:c.149T>C ENSP00000303500.2:p.Phe50Ser
ENST00000546844.1:c.164T>C ENSP00000446658.1:p.Phe55Ser
ENST00000548677.2:n.251T>C
ENST00000548928.1:n.86T>C
ENST00000549111.5:n.260T>C
ENST00000550978.6:c.148T>C
ENST00000551337.5:c.164T>C ENSP00000447620.1:p.Phe55Ser
ENST00000551988.5:n.253T>C
ENST00000553106.5:c.164T>C ENSP00000448059.1:p.Phe55Ser
ENST00000635500.1:n.132T>C
NM_000277.1:c.164T>C NP_000268.1:p.Phe55Ser
XM_011538422.1:c.164T>C XP_011536724.1:p.Phe55Ser
NM_000277.2:c.164T>C NP_000268.1:p.Phe55Ser
NM_001354304.1:c.164T>C NP_001341233.1:p.Phe55Ser
XM_017019370.2:c.164T>C XP_016874859.1:p.Phe55Ser
NM_000277.3:c.164T>C MANE Select NP_000268.1:p.Phe55Ser
NM_001354304.2:c.164T>C NP_001341233.1:p.Phe55Ser