Canonical Allele Identifier: CA386492983
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234213G>T (hg19) chr12:g.102840435G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840435G>T , CM000674.2:g.102840435G>T GRCh38
NC_000012.11:g.103234213G>T , CM000674.1:g.103234213G>T GRCh37
NC_000012.10:g.101758343G>T NCBI36
NG_008690.1:g.82168C>A
NG_008690.2:g.122976C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1280C>A MANE Select ENSP00000448059.1:p.Thr427Asn
ENST00000307000.7:c.1265C>A ENSP00000303500.2:p.Thr422Asn
ENST00000551114.2:n.942C>A
ENST00000553106.5:c.1280C>A ENSP00000448059.1:p.Thr427Asn
ENST00000635477.1:c.384C>A
ENST00000635528.1:n.795C>A
NM_000277.1:c.1280C>A NP_000268.1:p.Thr427Asn
XM_011538422.1:c.1223C>A XP_011536724.1:p.Thr408Asn
NM_000277.2:c.1280C>A NP_000268.1:p.Thr427Asn
NM_001354304.1:c.1280C>A NP_001341233.1:p.Thr427Asn
NM_000277.3:c.1280C>A MANE Select NP_000268.1:p.Thr427Asn
NM_001354304.2:c.1280C>A NP_001341233.1:p.Thr427Asn
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