Canonical Allele Identifier: CA386299515
Community Standard Title: NM_000277.3(PAH):c.492T>G (p.Ile164Met)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866613A>C , CM000674.2:g.102866613A>C GRCh38
NC_000012.11:g.103260391A>C , CM000674.1:g.103260391A>C GRCh37
NC_000012.10:g.101784521A>C NCBI36
NG_008690.1:g.55990T>G
NG_008690.2:g.96798T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.492T>G MANE Select NP_000268.1:p.Ile164Met
ENST00000553106.6:c.492T>G MANE Select ENSP00000448059.1:p.Ile164Met
NM_000277.1:c.492T>G NP_000268.1:p.Ile164Met
NM_000277.2:c.492T>G NP_000268.1:p.Ile164Met
NM_001354304.1:c.492T>G NP_001341233.1:p.Ile164Met
NM_001354304.2:c.492T>G NP_001341233.1:p.Ile164Met
ENST00000307000.7:c.477T>G ENSP00000303500.2:p.Ile159Met
ENST00000549111.5:n.588T>G
ENST00000551988.5:n.530+10849T>G
ENST00000553106.5:c.492T>G ENSP00000448059.1:p.Ile164Met
XM_011538422.1:c.492T>G XP_011536724.1:p.Ile164Met
XM_017019370.2:c.492T>G XP_016874859.1:p.Ile164Met
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