Canonical Allele Identifier: CA951232110
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102846959-TG-T
gnomAD v4: 12-102846959-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846964del , CM000674.2:g.102846964del GRCh38
NC_000012.11:g.103240742del , CM000674.1:g.103240742del GRCh37
NC_000012.10:g.101764872del NCBI36
NG_008690.1:g.75643del
NG_008690.2:g.116451del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.913-9del MANE Select ENSP00000448059.1:n.913-9del
ENST00000307000.7:c.898-9del ENSP00000303500.2:n.898-9del
ENST00000549247.6:n.672-9del
ENST00000551114.2:n.575-9del
ENST00000553106.5:c.913-9del ENSP00000448059.1:n.913-9del
ENST00000635477.1:c.74-2529del
ENST00000635528.1:n.419del
NM_000277.1:c.913-9del NP_000268.1:n.913-9del
XM_011538422.1:c.913-2529del XP_011536724.1:n.913-2529del
NM_000277.2:c.913-9del NP_000268.1:n.913-9del
NM_001354304.1:c.913-9del NP_001341233.1:n.913-9del
NM_000277.3:c.913-9del MANE Select NP_000268.1:n.913-9del
NM_001354304.2:c.913-9del NP_001341233.1:n.913-9del
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