Canonical Allele Identifier: CA481375331
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234191A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840413A>T , CM000674.2:g.102840413A>T GRCh38
NC_000012.11:g.103234191A>T , CM000674.1:g.103234191A>T GRCh37
NC_000012.10:g.101758321A>T NCBI36
NG_008690.1:g.82190T>A
NG_008690.2:g.122998T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1302T>A MANE Select ENSP00000448059.1:p.Ala434=
ENST00000307000.7:c.1287T>A ENSP00000303500.2:p.Ala429=
ENST00000551114.2:n.964T>A
ENST00000553106.5:c.1302T>A ENSP00000448059.1:p.Ala434=
ENST00000635477.1:c.406T>A
ENST00000635528.1:n.817T>A
NM_000277.1:c.1302T>A NP_000268.1:p.Ala434=
XM_011538422.1:c.1245T>A XP_011536724.1:p.Ala415=
NM_000277.2:c.1302T>A NP_000268.1:p.Ala434=
NM_001354304.1:c.1302T>A NP_001341233.1:p.Ala434=
NM_000277.3:c.1302T>A MANE Select NP_000268.1:p.Ala434=
NM_001354304.2:c.1302T>A NP_001341233.1:p.Ala434=
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