Canonical Allele Identifier: CA951244286
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102894457-T-A
gnomAD v4: 12-102894457-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894457T>A , CM000674.2:g.102894457T>A GRCh38
NC_000012.11:g.103288235T>A , CM000674.1:g.103288235T>A GRCh37
NC_000012.10:g.101812365T>A NCBI36
NG_008690.1:g.28146A>T
NG_008690.2:g.68954A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+278A>T MANE Select ENSP00000448059.1:n.352+278A>T
ENST00000307000.7:c.337+278A>T ENSP00000303500.2:n.337+278A>T
ENST00000548928.1:n.274+278A>T
ENST00000549111.5:n.448+278A>T
ENST00000550978.6:c.336+278A>T
ENST00000551337.5:c.352+278A>T ENSP00000447620.1:n.352+278A>T
ENST00000551988.5:n.441+278A>T
ENST00000553106.5:c.352+278A>T ENSP00000448059.1:n.352+278A>T
NM_000277.1:c.352+278A>T NP_000268.1:n.352+278A>T
XM_011538422.1:c.352+278A>T XP_011536724.1:n.352+278A>T
NM_000277.2:c.352+278A>T NP_000268.1:n.352+278A>T
NM_001354304.1:c.352+278A>T NP_001341233.1:n.352+278A>T
XM_017019370.2:c.352+278A>T XP_016874859.1:n.352+278A>T
NM_000277.3:c.352+278A>T MANE Select NP_000268.1:n.352+278A>T
NM_001354304.2:c.352+278A>T NP_001341233.1:n.352+278A>T
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