Canonical Allele Identifier: CA682822360
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1291212529
MyVariant Identifiers: chr12:g.103237443_103237444del (hg19) chr12:g.102843665_102843666del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843665_102843666del , CM000674.2:g.102843665_102843666del GRCh38
NC_000012.11:g.103237443_103237444del , CM000674.1:g.103237443_103237444del GRCh37
NC_000012.10:g.101761573_101761574del NCBI36
NG_008690.1:g.78937_78938del
NG_008690.2:g.119745_119746del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1179_1180del MANE Select ENSP00000448059.1:p.Asn393LysfsTer29
ENST00000307000.7:c.1164_1165del ENSP00000303500.2:p.Asn388LysfsTer29
ENST00000549247.6:n.938_939del
ENST00000551114.2:n.841_842del
ENST00000553106.5:c.1179_1180del ENSP00000448059.1:p.Asn393LysfsTer29
ENST00000635477.1:c.283_284del
ENST00000635528.1:n.694_695del
NM_000277.1:c.1179_1180del NP_000268.1:p.Asn393LysfsTer29
XM_011538422.1:c.1122_1123del XP_011536724.1:p.Asn374LysfsTer29
NM_000277.2:c.1179_1180del NP_000268.1:p.Asn393LysfsTer29
NM_001354304.1:c.1179_1180del NP_001341233.1:p.Asn393LysfsTer29
NM_000277.3:c.1179_1180del MANE Select NP_000268.1:p.Asn393LysfsTer29
NM_001354304.2:c.1179_1180del NP_001341233.1:p.Asn393LysfsTer29
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