Canonical Allele Identifier: CA386493479
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103238179A>T (hg19) chr12:g.102844401A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844401A>T , CM000674.2:g.102844401A>T GRCh38
NC_000012.11:g.103238179A>T , CM000674.1:g.103238179A>T GRCh37
NC_000012.10:g.101762309A>T NCBI36
NG_008690.1:g.78202T>A
NG_008690.2:g.119010T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1000T>A MANE Select ENSP00000448059.1:p.Cys334Ser
ENST00000307000.7:c.985T>A ENSP00000303500.2:p.Cys329Ser
ENST00000549247.6:n.759T>A
ENST00000551114.2:n.662T>A
ENST00000553106.5:c.1000T>A ENSP00000448059.1:p.Cys334Ser
ENST00000635477.1:c.104T>A
ENST00000635528.1:n.515T>A
NM_000277.1:c.1000T>A NP_000268.1:p.Cys334Ser
XM_011538422.1:c.943T>A XP_011536724.1:p.Cys315Ser
NM_000277.2:c.1000T>A NP_000268.1:p.Cys334Ser
NM_001354304.1:c.1000T>A NP_001341233.1:p.Cys334Ser
NM_000277.3:c.1000T>A MANE Select NP_000268.1:p.Cys334Ser
NM_001354304.2:c.1000T>A NP_001341233.1:p.Cys334Ser
Search 100 bp 5'
Search 100 bp 3'