Canonical Allele Identifier: CA386492947
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103234195A>T (hg19) chr12:g.102840417A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840417A>T , CM000674.2:g.102840417A>T GRCh38
NC_000012.11:g.103234195A>T , CM000674.1:g.103234195A>T GRCh37
NC_000012.10:g.101758325A>T NCBI36
NG_008690.1:g.82186T>A
NG_008690.2:g.122994T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1298T>A MANE Select ENSP00000448059.1:p.Leu433Ter
ENST00000307000.7:c.1283T>A ENSP00000303500.2:p.Leu428Ter
ENST00000551114.2:n.960T>A
ENST00000553106.5:c.1298T>A ENSP00000448059.1:p.Leu433Ter
ENST00000635477.1:c.402T>A
ENST00000635528.1:n.813T>A
NM_000277.1:c.1298T>A NP_000268.1:p.Leu433Ter
XM_011538422.1:c.1241T>A XP_011536724.1:p.Leu414Ter
NM_000277.2:c.1298T>A NP_000268.1:p.Leu433Ter
NM_001354304.1:c.1298T>A NP_001341233.1:p.Leu433Ter
NM_000277.3:c.1298T>A MANE Select NP_000268.1:p.Leu433Ter
NM_001354304.2:c.1298T>A NP_001341233.1:p.Leu433Ter
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