Canonical Allele Identifier: CA386296819
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM3954065
MyVariant Identifiers: chr12:g.103249054G>A (hg19) chr12:g.102855276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855276G>A , CM000674.2:g.102855276G>A GRCh38
NC_000012.11:g.103249054G>A , CM000674.1:g.103249054G>A GRCh37
NC_000012.10:g.101773184G>A NCBI36
NG_008690.1:g.67327C>T
NG_008690.2:g.108135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.566C>T MANE Select ENSP00000448059.1:p.Thr189Ile
ENST00000307000.7:c.551C>T ENSP00000303500.2:p.Thr184Ile
ENST00000549111.5:n.662C>T
ENST00000553106.5:c.566C>T ENSP00000448059.1:p.Thr189Ile
NM_000277.1:c.566C>T NP_000268.1:p.Thr189Ile
XM_011538422.1:c.566C>T XP_011536724.1:p.Thr189Ile
NM_000277.2:c.566C>T NP_000268.1:p.Thr189Ile
NM_001354304.1:c.566C>T NP_001341233.1:p.Thr189Ile
XM_017019370.2:c.566C>T XP_016874859.1:p.Thr189Ile
NM_000277.3:c.566C>T MANE Select NP_000268.1:p.Thr189Ile
NM_001354304.2:c.566C>T NP_001341233.1:p.Thr189Ile
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