Canonical Allele Identifier: CA242744148
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs930173305
MyVariant Identifiers: chr12:g.103237269del (hg19) chr12:g.102843491del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843492del , CM000674.2:g.102843492del GRCh38
NC_000012.11:g.103237270del , CM000674.1:g.103237270del GRCh37
NC_000012.10:g.101761400del NCBI36
NG_008690.1:g.79112del
NG_008690.2:g.119920del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+155del MANE Select ENSP00000448059.1:n.1199+155del
ENST00000307000.7:c.1184+155del ENSP00000303500.2:n.1184+155del
ENST00000549247.6:n.958+155del
ENST00000551114.2:n.861+155del
ENST00000553106.5:c.1199+155del ENSP00000448059.1:n.1199+155del
ENST00000635477.1:c.303+155del
ENST00000635528.1:n.714+155del
NM_000277.1:c.1199+155del NP_000268.1:n.1199+155del
XM_011538422.1:c.1142+155del XP_011536724.1:n.1142+155del
NM_000277.2:c.1199+155del NP_000268.1:n.1199+155del
NM_001354304.1:c.1199+155del NP_001341233.1:n.1199+155del
NM_000277.3:c.1199+155del MANE Select NP_000268.1:n.1199+155del
NM_001354304.2:c.1199+155del NP_001341233.1:n.1199+155del
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