Canonical Allele Identifier: CA2573147924
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1470778
ClinVar RCV Id: RCV001964349
dbSNP Id: rs2136635586
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843689_102843690delinsGC , CM000674.2:g.102843689_102843690delinsGC GRCh38
NC_000012.11:g.103237467_103237468delinsGC , CM000674.1:g.103237467_103237468delinsGC GRCh37
NC_000012.10:g.101761597_101761598delinsGC NCBI36
NG_008690.2:g.119721_119722delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1155_1156delinsGC MANE Select ENSP00000448059.1:p.Tyr386His
ENST00000307000.7:c.1140_1141delinsGC ENSP00000303500.2:p.Tyr381His
ENST00000549247.6:n.914_915delinsGC
ENST00000551114.2:n.817_818delinsGC
ENST00000553106.5:c.1155_1156delinsGC ENSP00000448059.1:p.Tyr386His
ENST00000635477.1:c.259_260delinsGC
ENST00000635528.1:n.670_671delinsGC
XM_011538422.1:c.1098_1099delinsGC XP_011536724.1:p.Tyr367His
NM_000277.2:c.1155_1156delinsGC NP_000268.1:p.Tyr386His
NM_001354304.1:c.1155_1156delinsGC NP_001341233.1:p.Tyr386His
NM_000277.3:c.1155_1156delinsGC MANE Select NP_000268.1:p.Tyr386His
NM_001354304.2:c.1155_1156delinsGC NP_001341233.1:p.Tyr386His
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