Canonical Allele Identifier: CA2620526864
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102855457-C-CAA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855458_102855459insAA , CM000674.2:g.102855458_102855459insAA GRCh38
NC_000012.11:g.103249236_103249237insAA , CM000674.1:g.103249236_103249237insAA GRCh37
NC_000012.10:g.101773366_101773367insAA NCBI36
NG_008690.1:g.67145_67146insTT
NG_008690.2:g.107953_107954insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-126_510-125insTT MANE Select ENSP00000448059.1:n.510-126_510-125insTT
ENST00000307000.7:c.495-126_495-125insTT ENSP00000303500.2:n.495-126_495-125insTT
ENST00000549111.5:n.606-126_606-125insTT
ENST00000551988.5:n.531-126_531-125insTT
ENST00000553106.5:c.510-126_510-125insTT ENSP00000448059.1:n.510-126_510-125insTT
NM_000277.1:c.510-126_510-125insTT NP_000268.1:n.510-126_510-125insTT
XM_011538422.1:c.510-126_510-125insTT XP_011536724.1:n.510-126_510-125insTT
NM_000277.2:c.510-126_510-125insTT NP_000268.1:n.510-126_510-125insTT
NM_001354304.1:c.510-126_510-125insTT NP_001341233.1:n.510-126_510-125insTT
XM_017019370.2:c.510-126_510-125insTT XP_016874859.1:n.510-126_510-125insTT
NM_000277.3:c.510-126_510-125insTT MANE Select NP_000268.1:n.510-126_510-125insTT
NM_001354304.2:c.510-126_510-125insTT NP_001341233.1:n.510-126_510-125insTT
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