Canonical Allele Identifier: CA2059449974
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855346A= , CM000674.2:g.102855346A= GRCh38
NC_000012.11:g.103249124A= , CM000674.1:g.103249124A= GRCh37
NC_000012.10:g.101773254A= NCBI36
NG_008690.1:g.67257T=
NG_008690.2:g.108065T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.510-14T= MANE Select ENSP00000448059.1:n.510-14T=
ENST00000307000.7:c.495-14T= ENSP00000303500.2:n.495-14T=
ENST00000549111.5:n.606-14T=
ENST00000551988.5:n.531-14T=
ENST00000553106.5:c.510-14T= ENSP00000448059.1:n.510-14T=
NM_000277.1:c.510-14T= NP_000268.1:n.510-14T=
XM_011538422.1:c.510-14T= XP_011536724.1:n.510-14T=
NM_000277.2:c.510-14T= NP_000268.1:n.510-14T=
NM_001354304.1:c.510-14T= NP_001341233.1:n.510-14T=
XM_017019370.2:c.510-14T= XP_016874859.1:n.510-14T=
NM_000277.3:c.510-14T= MANE Select NP_000268.1:n.510-14T=
NM_001354304.2:c.510-14T= NP_001341233.1:n.510-14T=
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