Canonical Allele Identifier: CA386295635
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103246676A>T (hg19) chr12:g.102852898A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852898A>T , CM000674.2:g.102852898A>T GRCh38
NC_000012.11:g.103246676A>T , CM000674.1:g.103246676A>T GRCh37
NC_000012.10:g.101770806A>T NCBI36
NG_008690.1:g.69705T>A
NG_008690.2:g.110513T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.759T>A MANE Select ENSP00000448059.1:p.Asp253Glu
ENST00000307000.7:c.744T>A ENSP00000303500.2:p.Asp248Glu
ENST00000549247.6:n.518T>A
ENST00000553106.5:c.759T>A ENSP00000448059.1:p.Asp253Glu
NM_000277.1:c.759T>A NP_000268.1:p.Asp253Glu
XM_011538422.1:c.759T>A XP_011536724.1:p.Asp253Glu
NM_000277.2:c.759T>A NP_000268.1:p.Asp253Glu
NM_001354304.1:c.759T>A NP_001341233.1:p.Asp253Glu
NM_000277.3:c.759T>A MANE Select NP_000268.1:p.Asp253Glu
NM_001354304.2:c.759T>A NP_001341233.1:p.Asp253Glu
Search 100 bp 5'
Search 100 bp 3'