Canonical Allele Identifier: CA229378
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102551
ClinVar RCV Id: RCV000088785 RCV002509214
dbSNP Id: rs199475603
MyVariant Identifiers: chr12:g.103237424_103237427del (hg19) chr12:g.102843646_102843649del (hg38)
ERepo: CA229378/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843649_102843652del , CM000674.2:g.102843649_102843652del GRCh38
NC_000012.11:g.103237427_103237430del , CM000674.1:g.103237427_103237430del GRCh37
NC_000012.10:g.101761557_101761560del NCBI36
NG_008690.1:g.78954_78957del
NG_008690.2:g.119762_119765del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1196_1199del MANE Select ENSP00000448059.1:p.Val399GlyfsTer?
ENST00000307000.7:c.1181_1184del ENSP00000303500.2:p.Val394GlyfsTer?
ENST00000549247.6:n.955_958del
ENST00000551114.2:n.858_861del
ENST00000553106.5:c.1196_1199del ENSP00000448059.1:p.Val399GlyfsTer?
ENST00000635477.1:c.300_303del
ENST00000635528.1:n.711_714del
NM_000277.1:c.1196_1199del NP_000268.1:p.Val399GlyfsTer?
XM_011538422.1:c.1139_1142del XP_011536724.1:p.Val380GlyfsTer?
NM_000277.2:c.1196_1199del NP_000268.1:p.Val399GlyfsTer?
NM_001354304.1:c.1196_1199del NP_001341233.1:p.Val399GlyfsTer?
NM_000277.3:c.1196_1199del MANE Select NP_000268.1:p.Val399GlyfsTer?
NM_001354304.2:c.1196_1199del NP_001341233.1:p.Val399GlyfsTer?
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