Canonical Allele Identifier: CA2575266755
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840529del , CM000674.2:g.102840529del GRCh38
NC_000012.11:g.103234307del , CM000674.1:g.103234307del GRCh37
NC_000012.10:g.101758437del NCBI36
NG_008690.1:g.82075del
NG_008690.2:g.122883del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-13del MANE Select ENSP00000448059.1:n.1200-13del
ENST00000307000.7:c.1185-13del ENSP00000303500.2:n.1185-13del
ENST00000549247.6:n.959-13del
ENST00000551114.2:n.862-13del
ENST00000553106.5:c.1200-13del ENSP00000448059.1:n.1200-13del
ENST00000635477.1:c.304-13del
ENST00000635528.1:n.715-13del
NM_000277.1:c.1200-13del NP_000268.1:n.1200-13del
XM_011538422.1:c.1143-13del XP_011536724.1:n.1143-13del
NM_000277.2:c.1200-13del NP_000268.1:n.1200-13del
NM_001354304.1:c.1200-13del NP_001341233.1:n.1200-13del
NM_000277.3:c.1200-13del MANE Select NP_000268.1:n.1200-13del
NM_001354304.2:c.1200-13del NP_001341233.1:n.1200-13del
Search 100 bp 5'
Search 100 bp 3'