Canonical Allele Identifier: CA481375775
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238168T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844390T>G , CM000674.2:g.102844390T>G GRCh38
NC_000012.11:g.103238168T>G , CM000674.1:g.103238168T>G GRCh37
NC_000012.10:g.101762298T>G NCBI36
NG_008690.1:g.78213A>C
NG_008690.2:g.119021A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1011A>C MANE Select ENSP00000448059.1:p.Gly337=
ENST00000307000.7:c.996A>C ENSP00000303500.2:p.Gly332=
ENST00000549247.6:n.770A>C
ENST00000551114.2:n.673A>C
ENST00000553106.5:c.1011A>C ENSP00000448059.1:p.Gly337=
ENST00000635477.1:c.115A>C
ENST00000635528.1:n.526A>C
NM_000277.1:c.1011A>C NP_000268.1:p.Gly337=
XM_011538422.1:c.954A>C XP_011536724.1:p.Gly318=
NM_000277.2:c.1011A>C NP_000268.1:p.Gly337=
NM_001354304.1:c.1011A>C NP_001341233.1:p.Gly337=
NM_000277.3:c.1011A>C MANE Select NP_000268.1:p.Gly337=
NM_001354304.2:c.1011A>C NP_001341233.1:p.Gly337=
Search 100 bp 5'
Search 100 bp 3'