Canonical Allele Identifier: CA481375568
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237426T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843648T>C , CM000674.2:g.102843648T>C GRCh38
NC_000012.11:g.103237426T>C , CM000674.1:g.103237426T>C GRCh37
NC_000012.10:g.101761556T>C NCBI36
NG_008690.1:g.78955A>G
NG_008690.2:g.119763A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1197A>G MANE Select ENSP00000448059.1:p.Val399=
ENST00000307000.7:c.1182A>G ENSP00000303500.2:p.Val394=
ENST00000549247.6:n.956A>G
ENST00000551114.2:n.859A>G
ENST00000553106.5:c.1197A>G ENSP00000448059.1:p.Val399=
ENST00000635477.1:c.301A>G
ENST00000635528.1:n.712A>G
NM_000277.1:c.1197A>G NP_000268.1:p.Val399=
XM_011538422.1:c.1140A>G XP_011536724.1:p.Val380=
NM_000277.2:c.1197A>G NP_000268.1:p.Val399=
NM_001354304.1:c.1197A>G NP_001341233.1:p.Val399=
NM_000277.3:c.1197A>G MANE Select NP_000268.1:p.Val399=
NM_001354304.2:c.1197A>G NP_001341233.1:p.Val399=
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