Canonical Allele Identifier: CA251522
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 576
dbSNP Id: rs5030861

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840399C>T , CM000674.2:g.102840399C>T GRCh38
NC_000012.11:g.103234177C>T , CM000674.1:g.103234177C>T GRCh37
NC_000012.10:g.101758307C>T NCBI36
NG_008690.1:g.82204G>A
NG_008690.2:g.123012G>A

Transcript Alleles

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