Canonical Allele Identifier: CA229429
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102588
dbSNP Id: rs1799970

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840398A>G , CM000674.2:g.102840398A>G GRCh38
NC_000012.11:g.103234176A>G , CM000674.1:g.103234176A>G GRCh37
NC_000012.10:g.101758306A>G NCBI36
NG_008690.1:g.82205T>C
NG_008690.2:g.123013T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+2T>C MANE Select ENSP00000448059.1:p.=
ENST00000307000.7:c.1300+2T>C ENSP00000303500.2:p.=
ENST00000551114.2:n.977+2T>C
ENST00000553106.5:c.1315+2T>C ENSP00000448059.1:p.=
ENST00000635477.1:n.419+2T>C
ENST00000635528.1:n.830+2T>C
NM_000277.1:c.1315+2T>C NP_000268.1:p.=
XM_011538422.1:c.1258+2T>C XP_011536724.1:p.=
NM_000277.2:c.1315+2T>C NP_000268.1:p.=
NM_001354304.1:c.1315+2T>C NP_001341233.1:p.=
NM_000277.3:c.1315+2T>C MANE Select NP_000268.1:p.=
NM_001354304.2:c.1315+2T>C NP_001341233.1:p.=