Canonical Allele Identifier: CA386493414
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102844358-A-T
MyVariant Identifiers: chr12:g.103238136A>T (hg19) chr12:g.102844358A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1043T>A MANE Select ENSP00000448059.1:p.Leu348Gln
ENST00000307000.7:c.1028T>A ENSP00000303500.2:p.Leu343Gln
ENST00000549247.6:n.802T>A
ENST00000551114.2:n.705T>A
ENST00000553106.5:c.1043T>A ENSP00000448059.1:p.Leu348Gln
ENST00000635477.1:c.147T>A
ENST00000635528.1:n.558T>A
NM_000277.1:c.1043T>A NP_000268.1:p.Leu348Gln
XM_011538422.1:c.986T>A XP_011536724.1:p.Leu329Gln
NM_000277.2:c.1043T>A NP_000268.1:p.Leu348Gln
NM_001354304.1:c.1043T>A NP_001341233.1:p.Leu348Gln
NM_000277.3:c.1043T>A MANE Select NP_000268.1:p.Leu348Gln
NM_001354304.2:c.1043T>A NP_001341233.1:p.Leu348Gln
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