Canonical Allele Identifier: CA2575267162
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102912711-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912715del , CM000674.2:g.102912715del GRCh38
NC_000012.11:g.103306493del , CM000674.1:g.103306493del GRCh37
NC_000012.10:g.101830623del NCBI36
NG_008690.1:g.9891del
NG_008690.2:g.50699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+79del MANE Select ENSP00000448059.1:n.168+79del
ENST00000307000.7:c.153+79del ENSP00000303500.2:n.153+79del
ENST00000546844.1:c.168+79del ENSP00000446658.1:n.168+79del
ENST00000548677.2:n.255+79del
ENST00000548928.1:n.90+79del
ENST00000549111.5:n.264+79del
ENST00000550978.6:c.152+79del
ENST00000551337.5:c.168+79del ENSP00000447620.1:n.168+79del
ENST00000551988.5:n.257+79del
ENST00000553106.5:c.168+79del ENSP00000448059.1:n.168+79del
ENST00000635500.1:n.136+79del
NM_000277.1:c.168+79del NP_000268.1:n.168+79del
XM_011538422.1:c.168+79del XP_011536724.1:n.168+79del
NM_000277.2:c.168+79del NP_000268.1:n.168+79del
NM_001354304.1:c.168+79del NP_001341233.1:n.168+79del
XM_017019370.2:c.168+79del XP_016874859.1:n.168+79del
NM_000277.3:c.168+79del MANE Select NP_000268.1:n.168+79del
NM_001354304.2:c.168+79del NP_001341233.1:n.168+79del
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