Canonical Allele Identifier: CA229715
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102802
ClinVar RCV Id: RCV000089053
dbSNP Id: rs62508594

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852938A>G , CM000674.2:g.102852938A>G GRCh38
NC_000012.11:g.103246716A>G , CM000674.1:g.103246716A>G GRCh37
NC_000012.10:g.101770846A>G NCBI36
NG_008690.1:g.69665T>C
NG_008690.2:g.110473T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.719T>C MANE Select ENSP00000448059.1:p.Phe240Ser
ENST00000307000.7:c.704T>C ENSP00000303500.2:p.Phe235Ser
ENST00000549247.6:n.478T>C
ENST00000553106.5:c.719T>C ENSP00000448059.1:p.Phe240Ser
NM_000277.1:c.719T>C NP_000268.1:p.Phe240Ser
XM_011538422.1:c.719T>C XP_011536724.1:p.Phe240Ser
NM_000277.2:c.719T>C NP_000268.1:p.Phe240Ser
NM_001354304.1:c.719T>C NP_001341233.1:p.Phe240Ser
NM_000277.3:c.719T>C MANE Select NP_000268.1:p.Phe240Ser
NM_001354304.2:c.719T>C NP_001341233.1:p.Phe240Ser