Canonical Allele Identifier: CA951260445
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1878397456
gnomAD v3: 12-102916752-G-GA
gnomAD v4: 12-102916752-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102916752_102916753insA , CM000674.2:g.102916752_102916753insA GRCh38
NC_000012.11:g.103310530_103310531insA , CM000674.1:g.103310530_103310531insA GRCh37
NC_000012.10:g.101834660_101834661insA NCBI36
NG_008690.1:g.5850_5851insT
NG_008690.2:g.46658_46659insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+318_60+319insT MANE Select ENSP00000448059.1:n.60+318_60+319insT
ENST00000307000.7:c.-88+318_-88+319insT ENSP00000303500.2:n.-88+318_-88+319insT
ENST00000546844.1:c.60+318_60+319insT ENSP00000446658.1:n.60+318_60+319insT
ENST00000547319.1:n.372-155_372-154insT
ENST00000549111.5:n.156+318_156+319insT
ENST00000550978.6:c.44+318_44+319insT
ENST00000551337.5:c.60+318_60+319insT ENSP00000447620.1:n.60+318_60+319insT
ENST00000551988.5:n.149+318_149+319insT
ENST00000553106.5:c.60+318_60+319insT ENSP00000448059.1:n.60+318_60+319insT
ENST00000635500.1:n.29-3855_29-3854insT
NM_000277.1:c.60+318_60+319insT NP_000268.1:n.60+318_60+319insT
XM_011538422.1:c.60+318_60+319insT XP_011536724.1:n.60+318_60+319insT
NM_000277.2:c.60+318_60+319insT NP_000268.1:n.60+318_60+319insT
NM_001354304.1:c.60+318_60+319insT NP_001341233.1:n.60+318_60+319insT
XM_017019370.2:c.60+318_60+319insT XP_016874859.1:n.60+318_60+319insT
NM_000277.3:c.60+318_60+319insT MANE Select NP_000268.1:n.60+318_60+319insT
NM_001354304.2:c.60+318_60+319insT NP_001341233.1:n.60+318_60+319insT
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