Canonical Allele Identifier: CA386493131
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103237428C>T (hg19) chr12:g.102843650C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843650C>T , CM000674.2:g.102843650C>T GRCh38
NC_000012.11:g.103237428C>T , CM000674.1:g.103237428C>T GRCh37
NC_000012.10:g.101761558C>T NCBI36
NG_008690.1:g.78953G>A
NG_008690.2:g.119761G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1195G>A MANE Select ENSP00000448059.1:p.Val399Ile
ENST00000307000.7:c.1180G>A ENSP00000303500.2:p.Val394Ile
ENST00000549247.6:n.954G>A
ENST00000551114.2:n.857G>A
ENST00000553106.5:c.1195G>A ENSP00000448059.1:p.Val399Ile
ENST00000635477.1:c.299G>A
ENST00000635528.1:n.710G>A
NM_000277.1:c.1195G>A NP_000268.1:p.Val399Ile
XM_011538422.1:c.1138G>A XP_011536724.1:p.Val380Ile
NM_000277.2:c.1195G>A NP_000268.1:p.Val399Ile
NM_001354304.1:c.1195G>A NP_001341233.1:p.Val399Ile
NM_000277.3:c.1195G>A MANE Select NP_000268.1:p.Val399Ile
NM_001354304.2:c.1195G>A NP_001341233.1:p.Val399Ile
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