Canonical Allele Identifier: CA2059441609
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840444A= , CM000674.2:g.102840444A= GRCh38
NC_000012.11:g.103234222A= , CM000674.1:g.103234222A= GRCh37
NC_000012.10:g.101758352A= NCBI36
NG_008690.1:g.82159T=
NG_008690.2:g.122967T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1271T= MANE Select ENSP00000448059.1:p.Leu424=
ENST00000307000.7:c.1256T= ENSP00000303500.2:p.Leu419=
ENST00000551114.2:n.933T=
ENST00000553106.5:c.1271T= ENSP00000448059.1:p.Leu424=
ENST00000635477.1:c.375T=
ENST00000635528.1:n.786T=
NM_000277.1:c.1271T= NP_000268.1:p.Leu424=
XM_011538422.1:c.1214T= XP_011536724.1:p.Leu405=
NM_000277.2:c.1271T= NP_000268.1:p.Leu424=
NM_001354304.1:c.1271T= NP_001341233.1:p.Leu424=
NM_000277.3:c.1271T= MANE Select NP_000268.1:p.Leu424=
NM_001354304.2:c.1271T= NP_001341233.1:p.Leu424=
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