Canonical Allele Identifier: CA386302322
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1724001
ClinVar RCV Id: RCV002306556
MyVariant Identifiers: chr12:g.103306589T>A (hg19) chr12:g.102912811T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.148A>T MANE Select ENSP00000448059.1:p.Lys50Ter
ENST00000307000.7:c.133A>T ENSP00000303500.2:p.Lys45Ter
ENST00000546844.1:c.148A>T ENSP00000446658.1:p.Lys50Ter
ENST00000548677.2:n.235A>T
ENST00000548928.1:n.70A>T
ENST00000549111.5:n.244A>T
ENST00000550978.6:c.132A>T
ENST00000551337.5:c.148A>T ENSP00000447620.1:p.Lys50Ter
ENST00000551988.5:n.237A>T
ENST00000553106.5:c.148A>T ENSP00000448059.1:p.Lys50Ter
ENST00000635500.1:n.116A>T
NM_000277.1:c.148A>T NP_000268.1:p.Lys50Ter
XM_011538422.1:c.148A>T XP_011536724.1:p.Lys50Ter
NM_000277.2:c.148A>T NP_000268.1:p.Lys50Ter
NM_001354304.1:c.148A>T NP_001341233.1:p.Lys50Ter
XM_017019370.2:c.148A>T XP_016874859.1:p.Lys50Ter
NM_000277.3:c.148A>T MANE Select NP_000268.1:p.Lys50Ter
NM_001354304.2:c.148A>T NP_001341233.1:p.Lys50Ter
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