Canonical Allele Identifier: CA481578506
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103248966G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855188G>T , CM000674.2:g.102855188G>T GRCh38
NC_000012.11:g.103248966G>T , CM000674.1:g.103248966G>T GRCh37
NC_000012.10:g.101773096G>T NCBI36
NG_008690.1:g.67415C>A
NG_008690.2:g.108223C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.654C>A MANE Select ENSP00000448059.1:p.Gly218=
ENST00000307000.7:c.639C>A ENSP00000303500.2:p.Gly213=
ENST00000549111.5:n.750C>A
ENST00000553106.5:c.654C>A ENSP00000448059.1:p.Gly218=
NM_000277.1:c.654C>A NP_000268.1:p.Gly218=
XM_011538422.1:c.654C>A XP_011536724.1:p.Gly218=
NM_000277.2:c.654C>A NP_000268.1:p.Gly218=
NM_001354304.1:c.654C>A NP_001341233.1:p.Gly218=
XM_017019370.2:c.654C>A XP_016874859.1:p.Gly218=
NM_000277.3:c.654C>A MANE Select NP_000268.1:p.Gly218=
NM_001354304.2:c.654C>A NP_001341233.1:p.Gly218=
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