Canonical Allele Identifier: CA919161391
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1555204713
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855232_102855253del , CM000674.2:g.102855232_102855253del GRCh38
NC_000012.11:g.103249010_103249031del , CM000674.1:g.103249010_103249031del GRCh37
NC_000012.10:g.101773140_101773161del NCBI36
NG_008690.1:g.67350_67371del
NG_008690.2:g.108158_108179del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.589_610del MANE Select ENSP00000448059.1:p.Leu197MetfsTer?
ENST00000307000.7:c.574_595del ENSP00000303500.2:p.Leu192MetfsTer?
ENST00000549111.5:n.685_706del
ENST00000553106.5:c.589_610del ENSP00000448059.1:p.Leu197MetfsTer?
NM_000277.1:c.589_610del NP_000268.1:p.Leu197MetfsTer?
XM_011538422.1:c.589_610del XP_011536724.1:p.Leu197MetfsTer?
NM_000277.2:c.589_610del NP_000268.1:p.Leu197MetfsTer?
NM_001354304.1:c.589_610del NP_001341233.1:p.Leu197MetfsTer?
XM_017019370.2:c.589_610del XP_016874859.1:p.Leu197MetfsTer?
NM_000277.3:c.589_610del MANE Select NP_000268.1:p.Leu197MetfsTer?
NM_001354304.2:c.589_610del NP_001341233.1:p.Leu197MetfsTer?
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