Canonical Allele Identifier: CA481375689
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237551A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843773A>G , CM000674.2:g.102843773A>G GRCh38
NC_000012.11:g.103237551A>G , CM000674.1:g.103237551A>G GRCh37
NC_000012.10:g.101761681A>G NCBI36
NG_008690.1:g.78830T>C
NG_008690.2:g.119638T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1072T>C MANE Select ENSP00000448059.1:p.Leu358=
ENST00000307000.7:c.1057T>C ENSP00000303500.2:p.Leu353=
ENST00000549247.6:n.831T>C
ENST00000551114.2:n.734T>C
ENST00000553106.5:c.1072T>C ENSP00000448059.1:p.Leu358=
ENST00000635477.1:c.176T>C
ENST00000635528.1:n.587T>C
NM_000277.1:c.1072T>C NP_000268.1:p.Leu358=
XM_011538422.1:c.1015T>C XP_011536724.1:p.Leu339=
NM_000277.2:c.1072T>C NP_000268.1:p.Leu358=
NM_001354304.1:c.1072T>C NP_001341233.1:p.Leu358=
NM_000277.3:c.1072T>C MANE Select NP_000268.1:p.Leu358=
NM_001354304.2:c.1072T>C NP_001341233.1:p.Leu358=
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