Canonical Allele Identifier: CA951241271
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102866082-G-GAAA
gnomAD v4: 12-102866082-G-GAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866082_102866083insAAA , CM000674.2:g.102866082_102866083insAAA GRCh38
NC_000012.11:g.103259860_103259861insAAA , CM000674.1:g.103259860_103259861insAAA GRCh37
NC_000012.10:g.101783990_101783991insAAA NCBI36
NG_008690.1:g.56520_56521insTTT
NG_008690.2:g.97328_97329insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+513_509+514insTTT MANE Select ENSP00000448059.1:n.509+513_509+514insTTT
ENST00000307000.7:c.494+513_494+514insTTT ENSP00000303500.2:n.494+513_494+514insTTT
ENST00000549111.5:n.605+513_605+514insTTT
ENST00000551988.5:n.531-10751_531-10750insTTT
ENST00000553106.5:c.509+513_509+514insTTT ENSP00000448059.1:n.509+513_509+514insTTT
NM_000277.1:c.509+513_509+514insTTT NP_000268.1:n.509+513_509+514insTTT
XM_011538422.1:c.509+513_509+514insTTT XP_011536724.1:n.509+513_509+514insTTT
NM_000277.2:c.509+513_509+514insTTT NP_000268.1:n.509+513_509+514insTTT
NM_001354304.1:c.509+513_509+514insTTT NP_001341233.1:n.509+513_509+514insTTT
XM_017019370.2:c.509+513_509+514insTTT XP_016874859.1:n.509+513_509+514insTTT
NM_000277.3:c.509+513_509+514insTTT MANE Select NP_000268.1:n.509+513_509+514insTTT
NM_001354304.2:c.509+513_509+514insTTT NP_001341233.1:n.509+513_509+514insTTT
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