Canonical Allele Identifier: CA2059448378
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854663G= , CM000674.2:g.102854663G= GRCh38
NC_000012.11:g.103248441G= , CM000674.1:g.103248441G= GRCh37
NC_000012.10:g.101772571G= NCBI36
NG_008690.1:g.67940C=
NG_008690.2:g.108748C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+473C= MANE Select ENSP00000448059.1:n.706+473C=
ENST00000307000.7:c.691+473C= ENSP00000303500.2:n.691+473C=
ENST00000553106.5:c.706+473C= ENSP00000448059.1:n.706+473C=
NM_000277.1:c.706+473C= NP_000268.1:n.706+473C=
XM_011538422.1:c.706+473C= XP_011536724.1:n.706+473C=
NM_000277.2:c.706+473C= NP_000268.1:n.706+473C=
NM_001354304.1:c.706+473C= NP_001341233.1:n.706+473C=
XM_017019370.2:c.*122C= XP_016874859.1:n.*122C=
NM_000277.3:c.706+473C= MANE Select NP_000268.1:n.706+473C=
NM_001354304.2:c.706+473C= NP_001341233.1:n.706+473C=
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