Canonical Allele Identifier: CA2620508536
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102894932-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894936del , CM000674.2:g.102894936del GRCh38
NC_000012.11:g.103288714del , CM000674.1:g.103288714del GRCh37
NC_000012.10:g.101812844del NCBI36
NG_008690.1:g.27670del
NG_008690.2:g.68478del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169-15del MANE Select ENSP00000448059.1:n.169-15del
ENST00000307000.7:c.154-15del ENSP00000303500.2:n.154-15del
ENST00000546844.1:c.169-15del ENSP00000446658.1:n.169-15del
ENST00000548677.2:n.256-15del
ENST00000548928.1:n.91-15del
ENST00000549111.5:n.265-15del
ENST00000550978.6:c.153-15del
ENST00000551337.5:c.169-15del ENSP00000447620.1:n.169-15del
ENST00000551988.5:n.258-15del
ENST00000553106.5:c.169-15del ENSP00000448059.1:n.169-15del
ENST00000635500.1:n.137-15del
NM_000277.1:c.169-15del NP_000268.1:n.169-15del
XM_011538422.1:c.169-15del XP_011536724.1:n.169-15del
NM_000277.2:c.169-15del NP_000268.1:n.169-15del
NM_001354304.1:c.169-15del NP_001341233.1:n.169-15del
XM_017019370.2:c.169-15del XP_016874859.1:n.169-15del
NM_000277.3:c.169-15del MANE Select NP_000268.1:n.169-15del
NM_001354304.2:c.169-15del NP_001341233.1:n.169-15del
Search 100 bp 5'
Search 100 bp 3'