Canonical Allele Identifier: CA481332669
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592968712
MyVariant Identifiers: chr12:g.103271249A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877471A>T , CM000674.2:g.102877471A>T GRCh38
NC_000012.11:g.103271249A>T , CM000674.1:g.103271249A>T GRCh37
NC_000012.10:g.101795379A>T NCBI36
NG_008690.1:g.45132T>A
NG_008690.2:g.85940T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.432T>A MANE Select ENSP00000448059.1:p.Ala144=
ENST00000307000.7:c.417T>A ENSP00000303500.2:p.Ala139=
ENST00000549111.5:n.528T>A
ENST00000550978.6:c.416T>A
ENST00000551988.5:n.521T>A
ENST00000553106.5:c.432T>A ENSP00000448059.1:p.Ala144=
NM_000277.1:c.432T>A NP_000268.1:p.Ala144=
XM_011538422.1:c.432T>A XP_011536724.1:p.Ala144=
NM_000277.2:c.432T>A NP_000268.1:p.Ala144=
NM_001354304.1:c.432T>A NP_001341233.1:p.Ala144=
XM_017019370.2:c.432T>A XP_016874859.1:p.Ala144=
NM_000277.3:c.432T>A MANE Select NP_000268.1:p.Ala144=
NM_001354304.2:c.432T>A NP_001341233.1:p.Ala144=
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