Canonical Allele Identifier: CA2601918285
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136639244
gnomAD v3: 12-102846716-T-A
gnomAD v4: 12-102846716-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846716T>A , CM000674.2:g.102846716T>A GRCh38
NC_000012.11:g.103240494T>A , CM000674.1:g.103240494T>A GRCh37
NC_000012.10:g.101764624T>A NCBI36
NG_008690.1:g.75887A>T
NG_008690.2:g.116695A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+179A>T MANE Select ENSP00000448059.1:n.969+179A>T
ENST00000307000.7:c.954+179A>T ENSP00000303500.2:n.954+179A>T
ENST00000549247.6:n.728+179A>T
ENST00000551114.2:n.631+179A>T
ENST00000553106.5:c.969+179A>T ENSP00000448059.1:n.969+179A>T
ENST00000635477.1:c.74-2285A>T
ENST00000635528.1:n.484+179A>T
NM_000277.1:c.969+179A>T NP_000268.1:n.969+179A>T
XM_011538422.1:c.913-2285A>T XP_011536724.1:n.913-2285A>T
NM_000277.2:c.969+179A>T NP_000268.1:n.969+179A>T
NM_001354304.1:c.969+179A>T NP_001341233.1:n.969+179A>T
NM_000277.3:c.969+179A>T MANE Select NP_000268.1:n.969+179A>T
NM_001354304.2:c.969+179A>T NP_001341233.1:n.969+179A>T
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