Canonical Allele Identifier: CA2620526828
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855416-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855418del , CM000674.2:g.102855418del GRCh38
NC_000012.11:g.103249196del , CM000674.1:g.103249196del GRCh37
NC_000012.10:g.101773326del NCBI36
NG_008690.1:g.67186del
NG_008690.2:g.107994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-85del MANE Select ENSP00000448059.1:n.510-85del
ENST00000307000.7:c.495-85del ENSP00000303500.2:n.495-85del
ENST00000549111.5:n.606-85del
ENST00000551988.5:n.531-85del
ENST00000553106.5:c.510-85del ENSP00000448059.1:n.510-85del
NM_000277.1:c.510-85del NP_000268.1:n.510-85del
XM_011538422.1:c.510-85del XP_011536724.1:n.510-85del
NM_000277.2:c.510-85del NP_000268.1:n.510-85del
NM_001354304.1:c.510-85del NP_001341233.1:n.510-85del
XM_017019370.2:c.510-85del XP_016874859.1:n.510-85del
NM_000277.3:c.510-85del MANE Select NP_000268.1:n.510-85del
NM_001354304.2:c.510-85del NP_001341233.1:n.510-85del
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