Canonical Allele Identifier: CA386493413
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238136A>C (hg19) chr12:g.102844358A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844358A>C , CM000674.2:g.102844358A>C GRCh38
NC_000012.11:g.103238136A>C , CM000674.1:g.103238136A>C GRCh37
NC_000012.10:g.101762266A>C NCBI36
NG_008690.1:g.78245T>G
NG_008690.2:g.119053T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1043T>G MANE Select ENSP00000448059.1:p.Leu348Arg
ENST00000307000.7:c.1028T>G ENSP00000303500.2:p.Leu343Arg
ENST00000549247.6:n.802T>G
ENST00000551114.2:n.705T>G
ENST00000553106.5:c.1043T>G ENSP00000448059.1:p.Leu348Arg
ENST00000635477.1:c.147T>G
ENST00000635528.1:n.558T>G
NM_000277.1:c.1043T>G NP_000268.1:p.Leu348Arg
XM_011538422.1:c.986T>G XP_011536724.1:p.Leu329Arg
NM_000277.2:c.1043T>G NP_000268.1:p.Leu348Arg
NM_001354304.1:c.1043T>G NP_001341233.1:p.Leu348Arg
NM_000277.3:c.1043T>G MANE Select NP_000268.1:p.Leu348Arg
NM_001354304.2:c.1043T>G NP_001341233.1:p.Leu348Arg
Search 100 bp 5'
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