Canonical Allele Identifier: CA481375651
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102843726-G-A
MyVariant Identifiers: chr12:g.103237504G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843726G>A , CM000674.2:g.102843726G>A GRCh38
NC_000012.11:g.103237504G>A , CM000674.1:g.103237504G>A GRCh37
NC_000012.10:g.101761634G>A NCBI36
NG_008690.1:g.78877C>T
NG_008690.2:g.119685C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1119C>T MANE Select ENSP00000448059.1:p.Ala373=
ENST00000307000.7:c.1104C>T ENSP00000303500.2:p.Ala368=
ENST00000549247.6:n.878C>T
ENST00000551114.2:n.781C>T
ENST00000553106.5:c.1119C>T ENSP00000448059.1:p.Ala373=
ENST00000635477.1:c.223C>T
ENST00000635528.1:n.634C>T
NM_000277.1:c.1119C>T NP_000268.1:p.Ala373=
XM_011538422.1:c.1062C>T XP_011536724.1:p.Ala354=
NM_000277.2:c.1119C>T NP_000268.1:p.Ala373=
NM_001354304.1:c.1119C>T NP_001341233.1:p.Ala373=
NM_000277.3:c.1119C>T MANE Select NP_000268.1:p.Ala373=
NM_001354304.2:c.1119C>T NP_001341233.1:p.Ala373=
Search 100 bp 5'
Search 100 bp 3'