Canonical Allele Identifier: CA386493323
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237533G>T (hg19) chr12:g.102843755G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843755G>T , CM000674.2:g.102843755G>T GRCh38
NC_000012.11:g.103237533G>T , CM000674.1:g.103237533G>T GRCh37
NC_000012.10:g.101761663G>T NCBI36
NG_008690.1:g.78848C>A
NG_008690.2:g.119656C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1090C>A MANE Select ENSP00000448059.1:p.Leu364Ile
ENST00000307000.7:c.1075C>A ENSP00000303500.2:p.Leu359Ile
ENST00000549247.6:n.849C>A
ENST00000551114.2:n.752C>A
ENST00000553106.5:c.1090C>A ENSP00000448059.1:p.Leu364Ile
ENST00000635477.1:c.194C>A
ENST00000635528.1:n.605C>A
NM_000277.1:c.1090C>A NP_000268.1:p.Leu364Ile
XM_011538422.1:c.1033C>A XP_011536724.1:p.Leu345Ile
NM_000277.2:c.1090C>A NP_000268.1:p.Leu364Ile
NM_001354304.1:c.1090C>A NP_001341233.1:p.Leu364Ile
NM_000277.3:c.1090C>A MANE Select NP_000268.1:p.Leu364Ile
NM_001354304.2:c.1090C>A NP_001341233.1:p.Leu364Ile
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