Canonical Allele Identifier: CA386302321
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306589T>G (hg19) chr12:g.102912811T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912811T>G , CM000674.2:g.102912811T>G GRCh38
NC_000012.11:g.103306589T>G , CM000674.1:g.103306589T>G GRCh37
NC_000012.10:g.101830719T>G NCBI36
NG_008690.1:g.9792A>C
NG_008690.2:g.50600A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.148A>C MANE Select ENSP00000448059.1:p.Lys50Gln
ENST00000307000.7:c.133A>C ENSP00000303500.2:p.Lys45Gln
ENST00000546844.1:c.148A>C ENSP00000446658.1:p.Lys50Gln
ENST00000548677.2:n.235A>C
ENST00000548928.1:n.70A>C
ENST00000549111.5:n.244A>C
ENST00000550978.6:c.132A>C
ENST00000551337.5:c.148A>C ENSP00000447620.1:p.Lys50Gln
ENST00000551988.5:n.237A>C
ENST00000553106.5:c.148A>C ENSP00000448059.1:p.Lys50Gln
ENST00000635500.1:n.116A>C
NM_000277.1:c.148A>C NP_000268.1:p.Lys50Gln
XM_011538422.1:c.148A>C XP_011536724.1:p.Lys50Gln
NM_000277.2:c.148A>C NP_000268.1:p.Lys50Gln
NM_001354304.1:c.148A>C NP_001341233.1:p.Lys50Gln
XM_017019370.2:c.148A>C XP_016874859.1:p.Lys50Gln
NM_000277.3:c.148A>C MANE Select NP_000268.1:p.Lys50Gln
NM_001354304.2:c.148A>C NP_001341233.1:p.Lys50Gln
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