Canonical Allele Identifier: CA951244108
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1701482003
gnomAD v3: 12-102894428-G-GA
gnomAD v4: 12-102894428-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894428_102894429insA , CM000674.2:g.102894428_102894429insA GRCh38
NC_000012.11:g.103288206_103288207insA , CM000674.1:g.103288206_103288207insA GRCh37
NC_000012.10:g.101812336_101812337insA NCBI36
NG_008690.1:g.28174_28175insT
NG_008690.2:g.68982_68983insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+306_352+307insT MANE Select ENSP00000448059.1:n.352+306_352+307insT
ENST00000307000.7:c.337+306_337+307insT ENSP00000303500.2:n.337+306_337+307insT
ENST00000548928.1:n.274+306_274+307insT
ENST00000549111.5:n.448+306_448+307insT
ENST00000550978.6:c.336+306_336+307insT
ENST00000551337.5:c.352+306_352+307insT ENSP00000447620.1:n.352+306_352+307insT
ENST00000551988.5:n.441+306_441+307insT
ENST00000553106.5:c.352+306_352+307insT ENSP00000448059.1:n.352+306_352+307insT
NM_000277.1:c.352+306_352+307insT NP_000268.1:n.352+306_352+307insT
XM_011538422.1:c.352+306_352+307insT XP_011536724.1:n.352+306_352+307insT
NM_000277.2:c.352+306_352+307insT NP_000268.1:n.352+306_352+307insT
NM_001354304.1:c.352+306_352+307insT NP_001341233.1:n.352+306_352+307insT
XM_017019370.2:c.352+306_352+307insT XP_016874859.1:n.352+306_352+307insT
NM_000277.3:c.352+306_352+307insT MANE Select NP_000268.1:n.352+306_352+307insT
NM_001354304.2:c.352+306_352+307insT NP_001341233.1:n.352+306_352+307insT
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