Canonical Allele Identifier: CA481375741
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238126A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844348A>G , CM000674.2:g.102844348A>G GRCh38
NC_000012.11:g.103238126A>G , CM000674.1:g.103238126A>G GRCh37
NC_000012.10:g.101762256A>G NCBI36
NG_008690.1:g.78255T>C
NG_008690.2:g.119063T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1053T>C MANE Select ENSP00000448059.1:p.Phe351=
ENST00000307000.7:c.1038T>C ENSP00000303500.2:p.Phe346=
ENST00000549247.6:n.812T>C
ENST00000551114.2:n.715T>C
ENST00000553106.5:c.1053T>C ENSP00000448059.1:p.Phe351=
ENST00000635477.1:c.157T>C
ENST00000635528.1:n.568T>C
NM_000277.1:c.1053T>C NP_000268.1:p.Phe351=
XM_011538422.1:c.996T>C XP_011536724.1:p.Phe332=
NM_000277.2:c.1053T>C NP_000268.1:p.Phe351=
NM_001354304.1:c.1053T>C NP_001341233.1:p.Phe351=
NM_000277.3:c.1053T>C MANE Select NP_000268.1:p.Phe351=
NM_001354304.2:c.1053T>C NP_001341233.1:p.Phe351=
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