Canonical Allele Identifier: CA386302185
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103271282A>C (hg19) chr12:g.102877504A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877504A>C , CM000674.2:g.102877504A>C GRCh38
NC_000012.11:g.103271282A>C , CM000674.1:g.103271282A>C GRCh37
NC_000012.10:g.101795412A>C NCBI36
NG_008690.1:g.45099T>G
NG_008690.2:g.85907T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.399T>G MANE Select ENSP00000448059.1:p.Asn133Lys
ENST00000307000.7:c.384T>G ENSP00000303500.2:p.Asn128Lys
ENST00000549111.5:n.495T>G
ENST00000550978.6:c.383T>G
ENST00000551337.5:c.399T>G ENSP00000447620.1:p.Asn133Lys
ENST00000551988.5:n.488T>G
ENST00000553106.5:c.399T>G ENSP00000448059.1:p.Asn133Lys
NM_000277.1:c.399T>G NP_000268.1:p.Asn133Lys
XM_011538422.1:c.399T>G XP_011536724.1:p.Asn133Lys
NM_000277.2:c.399T>G NP_000268.1:p.Asn133Lys
NM_001354304.1:c.399T>G NP_001341233.1:p.Asn133Lys
XM_017019370.2:c.399T>G XP_016874859.1:p.Asn133Lys
NM_000277.3:c.399T>G MANE Select NP_000268.1:p.Asn133Lys
NM_001354304.2:c.399T>G NP_001341233.1:p.Asn133Lys
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