Canonical Allele Identifier: CA386302281
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103306571C>A (hg19) chr12:g.102912793C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912793C>A , CM000674.2:g.102912793C>A GRCh38
NC_000012.11:g.103306571C>A , CM000674.1:g.103306571C>A GRCh37
NC_000012.10:g.101830701C>A NCBI36
NG_008690.1:g.9810G>T
NG_008690.2:g.50618G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.166G>T MANE Select ENSP00000448059.1:p.Glu56Ter
ENST00000307000.7:c.151G>T ENSP00000303500.2:p.Glu51Ter
ENST00000546844.1:c.166G>T ENSP00000446658.1:p.Glu56Ter
ENST00000548677.2:n.253G>T
ENST00000548928.1:n.88G>T
ENST00000549111.5:n.262G>T
ENST00000550978.6:c.150G>T
ENST00000551337.5:c.166G>T ENSP00000447620.1:p.Glu56Ter
ENST00000551988.5:n.255G>T
ENST00000553106.5:c.166G>T ENSP00000448059.1:p.Glu56Ter
ENST00000635500.1:n.134G>T
NM_000277.1:c.166G>T NP_000268.1:p.Glu56Ter
XM_011538422.1:c.166G>T XP_011536724.1:p.Glu56Ter
NM_000277.2:c.166G>T NP_000268.1:p.Glu56Ter
NM_001354304.1:c.166G>T NP_001341233.1:p.Glu56Ter
XM_017019370.2:c.166G>T XP_016874859.1:p.Glu56Ter
NM_000277.3:c.166G>T MANE Select NP_000268.1:p.Glu56Ter
NM_001354304.2:c.166G>T NP_001341233.1:p.Glu56Ter
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