Canonical Allele Identifier: CA2580085713
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1920359
ClinVar RCV Id: RCV002630531
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855211dup , CM000674.2:g.102855211dup GRCh38
NC_000012.11:g.103248989dup , CM000674.1:g.103248989dup GRCh37
NC_000012.10:g.101773119dup NCBI36
NG_008690.1:g.67393dup
NG_008690.2:g.108201dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.632dup MANE Select ENSP00000448059.1:p.Leu212ThrfsTer3
ENST00000307000.7:c.617dup ENSP00000303500.2:p.Leu207ThrfsTer3
ENST00000549111.5:n.728dup
ENST00000553106.5:c.632dup ENSP00000448059.1:p.Leu212ThrfsTer3
NM_000277.1:c.632dup NP_000268.1:p.Leu212ThrfsTer3
XM_011538422.1:c.632dup XP_011536724.1:p.Leu212ThrfsTer3
NM_000277.2:c.632dup NP_000268.1:p.Leu212ThrfsTer3
NM_001354304.1:c.632dup NP_001341233.1:p.Leu212ThrfsTer3
XM_017019370.2:c.632dup XP_016874859.1:p.Leu212ThrfsTer3
NM_000277.3:c.632dup MANE Select NP_000268.1:p.Leu212ThrfsTer3
NM_001354304.2:c.632dup NP_001341233.1:p.Leu212ThrfsTer3
Search 100 bp 5'
Search 100 bp 3'