Canonical Allele Identifier: CA2059446388
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843664_102843666delinsTCA , CM000674.2:g.102843664_102843666delinsTCA GRCh38
NC_000012.11:g.103237442_103237444delinsTCA , CM000674.1:g.103237442_103237444delinsTCA GRCh37
NC_000012.10:g.101761572_101761574delinsTCA NCBI36
NG_008690.1:g.78937_78939delinsTGA
NG_008690.2:g.119745_119747delinsTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1179_1181delinsTGA MANE Select ENSP00000448059.1:p.Asn393=
ENST00000307000.7:c.1164_1166delinsTGA ENSP00000303500.2:p.Asn388=
ENST00000549247.6:n.938_940delinsTGA
ENST00000551114.2:n.841_843delinsTGA
ENST00000553106.5:c.1179_1181delinsTGA ENSP00000448059.1:p.Asn393=
ENST00000635477.1:c.283_285delinsTGA
ENST00000635528.1:n.694_696delinsTGA
NM_000277.1:c.1179_1181delinsTGA NP_000268.1:p.Asn393=
XM_011538422.1:c.1122_1124delinsTGA XP_011536724.1:p.Asn374=
NM_000277.2:c.1179_1181delinsTGA NP_000268.1:p.Asn393=
NM_001354304.1:c.1179_1181delinsTGA NP_001341233.1:p.Asn393=
NM_000277.3:c.1179_1181delinsTGA MANE Select NP_000268.1:p.Asn393=
NM_001354304.2:c.1179_1181delinsTGA NP_001341233.1:p.Asn393=
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