Canonical Allele Identifier: CA2059449810
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855313C= , CM000674.2:g.102855313C= GRCh38
NC_000012.11:g.103249091C= , CM000674.1:g.103249091C= GRCh37
NC_000012.10:g.101773221C= NCBI36
NG_008690.1:g.67290G=
NG_008690.2:g.108098G=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.529G= MANE Select ENSP00000448059.1:p.Val177=
ENST00000307000.7:c.514G= ENSP00000303500.2:p.Val172=
ENST00000549111.5:n.625G=
ENST00000551988.5:n.550G=
ENST00000553106.5:c.529G= ENSP00000448059.1:p.Val177=
NM_000277.1:c.529G= NP_000268.1:p.Val177=
XM_011538422.1:c.529G= XP_011536724.1:p.Val177=
NM_000277.2:c.529G= NP_000268.1:p.Val177=
NM_001354304.1:c.529G= NP_001341233.1:p.Val177=
XM_017019370.2:c.529G= XP_016874859.1:p.Val177=
NM_000277.3:c.529G= MANE Select NP_000268.1:p.Val177=
NM_001354304.2:c.529G= NP_001341233.1:p.Val177=
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