Canonical Allele Identifier: CA229381
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102553
dbSNP Id: rs199475593

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843647T>G , CM000674.2:g.102843647T>G GRCh38
NC_000012.11:g.103237425T>G , CM000674.1:g.103237425T>G GRCh37
NC_000012.10:g.101761555T>G NCBI36
NG_008690.1:g.78956A>C
NG_008690.2:g.119764A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1198A>C MANE Select ENSP00000448059.1:p.Arg400=
ENST00000307000.7:c.1183A>C ENSP00000303500.2:p.Arg395=
ENST00000549247.6:n.957A>C
ENST00000551114.2:n.860A>C
ENST00000553106.5:c.1198A>C ENSP00000448059.1:p.Arg400=
ENST00000635477.1:c.302A>C
ENST00000635528.1:n.713A>C
NM_000277.1:c.1198A>C NP_000268.1:p.Arg400=
XM_011538422.1:c.1141A>C XP_011536724.1:p.Arg381=
NM_000277.2:c.1198A>C NP_000268.1:p.Arg400=
NM_001354304.1:c.1198A>C NP_001341233.1:p.Arg400=
NM_000277.3:c.1198A>C MANE Select NP_000268.1:p.Arg400=
NM_001354304.2:c.1198A>C NP_001341233.1:p.Arg400=