Canonical Allele Identifier: CA229297
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102489
ClinVar RCV Id: RCV000088720 RCV001269310
dbSNP Id: rs199475600
MyVariant Identifiers: chr12:g.103238126_103238136del (hg19) chr12:g.102844348_102844358del (hg38)
ERepo: CA229297/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844348_102844358del , CM000674.2:g.102844348_102844358del GRCh38
NC_000012.11:g.103238126_103238136del , CM000674.1:g.103238126_103238136del GRCh37
NC_000012.10:g.101762256_101762266del NCBI36
NG_008690.1:g.78245_78255del
NG_008690.2:g.119053_119063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1043_1053del MANE Select ENSP00000448059.1:p.Leu348ArgfsTer2
ENST00000307000.7:c.1028_1038del ENSP00000303500.2:p.Leu343ArgfsTer2
ENST00000549247.6:n.802_812del
ENST00000551114.2:n.705_715del
ENST00000553106.5:c.1043_1053del ENSP00000448059.1:p.Leu348ArgfsTer2
ENST00000635477.1:c.147_157del
ENST00000635528.1:n.558_568del
NM_000277.1:c.1043_1053del NP_000268.1:p.Leu348ArgfsTer2
XM_011538422.1:c.986_996del XP_011536724.1:p.Leu329ArgfsTer2
NM_000277.2:c.1043_1053del NP_000268.1:p.Leu348ArgfsTer2
NM_001354304.1:c.1043_1053del NP_001341233.1:p.Leu348ArgfsTer2
NM_000277.3:c.1043_1053del MANE Select NP_000268.1:p.Leu348ArgfsTer2
NM_001354304.2:c.1043_1053del NP_001341233.1:p.Leu348ArgfsTer2
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