Canonical Allele Identifier: CA386492903
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103232996C>A (hg19) chr12:g.102839218C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839218C>A , CM000674.2:g.102839218C>A GRCh38
NC_000012.11:g.103232996C>A , CM000674.1:g.103232996C>A GRCh37
NC_000012.10:g.101757126C>A NCBI36
NG_008690.1:g.83385G>T
NG_008690.2:g.124193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316G>T MANE Select ENSP00000448059.1:p.Ser439Ile
ENST00000307000.7:c.1301G>T ENSP00000303500.2:p.Ser434Ile
ENST00000551114.2:n.978G>T
ENST00000553106.5:c.1316G>T ENSP00000448059.1:p.Ser439Ile
ENST00000635477.1:c.420G>T
ENST00000635528.1:n.831G>T
NM_000277.1:c.1316G>T NP_000268.1:p.Ser439Ile
XM_011538422.1:c.1259G>T XP_011536724.1:p.Ser420Ile
NM_000277.2:c.1316G>T NP_000268.1:p.Ser439Ile
NM_001354304.1:c.1316G>T NP_001341233.1:p.Ser439Ile
NM_000277.3:c.1316G>T MANE Select NP_000268.1:p.Ser439Ile
NM_001354304.2:c.1316G>T NP_001341233.1:p.Ser439Ile
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