Canonical Allele Identifier: CA386304200
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103288651A>T (hg19) chr12:g.102894873A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894873A>T , CM000674.2:g.102894873A>T GRCh38
NC_000012.11:g.103288651A>T , CM000674.1:g.103288651A>T GRCh37
NC_000012.10:g.101812781A>T NCBI36
NG_008690.1:g.27730T>A
NG_008690.2:g.68538T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.214T>A MANE Select ENSP00000448059.1:p.Leu72Ile
ENST00000307000.7:c.199T>A ENSP00000303500.2:p.Leu67Ile
ENST00000546844.1:c.214T>A ENSP00000446658.1:p.Leu72Ile
ENST00000548677.2:n.301T>A
ENST00000548928.1:n.136T>A
ENST00000549111.5:n.310T>A
ENST00000550978.6:c.198T>A
ENST00000551337.5:c.214T>A ENSP00000447620.1:p.Leu72Ile
ENST00000551988.5:n.303T>A
ENST00000553106.5:c.214T>A ENSP00000448059.1:p.Leu72Ile
ENST00000635500.1:n.182T>A
NM_000277.1:c.214T>A NP_000268.1:p.Leu72Ile
XM_011538422.1:c.214T>A XP_011536724.1:p.Leu72Ile
NM_000277.2:c.214T>A NP_000268.1:p.Leu72Ile
NM_001354304.1:c.214T>A NP_001341233.1:p.Leu72Ile
XM_017019370.2:c.214T>A XP_016874859.1:p.Leu72Ile
NM_000277.3:c.214T>A MANE Select NP_000268.1:p.Leu72Ile
NM_001354304.2:c.214T>A NP_001341233.1:p.Leu72Ile
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