Canonical Allele Identifier: CA655173668
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1796389934
COSMIC: COSN8585175
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840220G>T , CM000674.2:g.102840220G>T GRCh38
NC_000012.11:g.103233998G>T , CM000674.1:g.103233998G>T GRCh37
NC_000012.10:g.101758128G>T NCBI36
NG_008690.1:g.82383C>A
NG_008690.2:g.123191C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+180C>A MANE Select ENSP00000448059.1:n.1315+180C>A
ENST00000307000.7:c.1300+180C>A ENSP00000303500.2:n.1300+180C>A
ENST00000551114.2:n.977+180C>A
ENST00000553106.5:c.1315+180C>A ENSP00000448059.1:n.1315+180C>A
ENST00000635477.1:c.419+180C>A
ENST00000635528.1:n.830+180C>A
NM_000277.1:c.1315+180C>A NP_000268.1:n.1315+180C>A
XM_011538422.1:c.1258+180C>A XP_011536724.1:n.1258+180C>A
NM_000277.2:c.1315+180C>A NP_000268.1:n.1315+180C>A
NM_001354304.1:c.1315+180C>A NP_001341233.1:n.1315+180C>A
NM_000277.3:c.1315+180C>A MANE Select NP_000268.1:n.1315+180C>A
NM_001354304.2:c.1315+180C>A NP_001341233.1:n.1315+180C>A
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