Canonical Allele Identifier: CA386302228
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103271304T>A (hg19) chr12:g.102877526T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877526T>A , CM000674.2:g.102877526T>A GRCh38
NC_000012.11:g.103271304T>A , CM000674.1:g.103271304T>A GRCh37
NC_000012.10:g.101795434T>A NCBI36
NG_008690.1:g.45077A>T
NG_008690.2:g.85885A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.377A>T MANE Select ENSP00000448059.1:p.Gln126Leu
ENST00000307000.7:c.362A>T ENSP00000303500.2:p.Gln121Leu
ENST00000549111.5:n.473A>T
ENST00000550978.6:c.361A>T
ENST00000551337.5:c.377A>T ENSP00000447620.1:p.Gln126Leu
ENST00000551988.5:n.466A>T
ENST00000553106.5:c.377A>T ENSP00000448059.1:p.Gln126Leu
NM_000277.1:c.377A>T NP_000268.1:p.Gln126Leu
XM_011538422.1:c.377A>T XP_011536724.1:p.Gln126Leu
NM_000277.2:c.377A>T NP_000268.1:p.Gln126Leu
NM_001354304.1:c.377A>T NP_001341233.1:p.Gln126Leu
XM_017019370.2:c.377A>T XP_016874859.1:p.Gln126Leu
NM_000277.3:c.377A>T MANE Select NP_000268.1:p.Gln126Leu
NM_001354304.2:c.377A>T NP_001341233.1:p.Gln126Leu
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