Canonical Allele Identifier: CA229353
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102530
ClinVar RCV Id: RCV000088763 RCV001269038
dbSNP Id: rs62516099
MyVariant Identifiers: chr12:g.103237505_103237506del (hg19) chr12:g.102843727_102843728del (hg38)
ERepo: CA229353/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843727_102843728del , CM000674.2:g.102843727_102843728del GRCh38
NC_000012.11:g.103237505_103237506del , CM000674.1:g.103237505_103237506del GRCh37
NC_000012.10:g.101761635_101761636del NCBI36
NG_008690.1:g.78875_78876del
NG_008690.2:g.119683_119684del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1117_1118del MANE Select ENSP00000448059.1:p.Ala373HisfsTer20
ENST00000307000.7:c.1102_1103del ENSP00000303500.2:p.Ala368HisfsTer20
ENST00000549247.6:n.876_877del
ENST00000551114.2:n.779_780del
ENST00000553106.5:c.1117_1118del ENSP00000448059.1:p.Ala373HisfsTer20
ENST00000635477.1:c.221_222del
ENST00000635528.1:n.632_633del
NM_000277.1:c.1117_1118del NP_000268.1:p.Ala373HisfsTer20
XM_011538422.1:c.1060_1061del XP_011536724.1:p.Ala354HisfsTer20
NM_000277.2:c.1117_1118del NP_000268.1:p.Ala373HisfsTer20
NM_001354304.1:c.1117_1118del NP_001341233.1:p.Ala373HisfsTer20
NM_000277.3:c.1117_1118del MANE Select NP_000268.1:p.Ala373HisfsTer20
NM_001354304.2:c.1117_1118del NP_001341233.1:p.Ala373HisfsTer20
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