Canonical Allele Identifier: CA2580085716
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1725114
ClinVar RCV Id: RCV002308173
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855307_102855308del , CM000674.2:g.102855307_102855308del GRCh38
NC_000012.11:g.103249085_103249086del , CM000674.1:g.103249085_103249086del GRCh37
NC_000012.10:g.101773215_101773216del NCBI36
NG_008690.1:g.67296_67297del
NG_008690.2:g.108104_108105del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.535_536del MANE Select ENSP00000448059.1:p.Tyr179HisfsTer20
ENST00000307000.7:c.520_521del ENSP00000303500.2:p.Tyr174HisfsTer20
ENST00000549111.5:n.631_632del
ENST00000551988.5:n.556_557del
ENST00000553106.5:c.535_536del ENSP00000448059.1:p.Tyr179HisfsTer20
NM_000277.1:c.535_536del NP_000268.1:p.Tyr179HisfsTer20
XM_011538422.1:c.535_536del XP_011536724.1:p.Tyr179HisfsTer20
NM_000277.2:c.535_536del NP_000268.1:p.Tyr179HisfsTer20
NM_001354304.1:c.535_536del NP_001341233.1:p.Tyr179HisfsTer20
XM_017019370.2:c.535_536del XP_016874859.1:p.Tyr179HisfsTer20
NM_000277.3:c.535_536del MANE Select NP_000268.1:p.Tyr179HisfsTer20
NM_001354304.2:c.535_536del NP_001341233.1:p.Tyr179HisfsTer20
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