Canonical Allele Identifier: CA386299568
Community Standard Title: NM_000277.3(PAH):c.481T>G (p.Phe161Val)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866624A>C , CM000674.2:g.102866624A>C GRCh38
NC_000012.11:g.103260402A>C , CM000674.1:g.103260402A>C GRCh37
NC_000012.10:g.101784532A>C NCBI36
NG_008690.1:g.55979T>G
NG_008690.2:g.96787T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.481T>G MANE Select NP_000268.1:p.Phe161Val
ENST00000553106.6:c.481T>G MANE Select ENSP00000448059.1:p.Phe161Val
NM_000277.1:c.481T>G NP_000268.1:p.Phe161Val
NM_000277.2:c.481T>G NP_000268.1:p.Phe161Val
NM_001354304.1:c.481T>G NP_001341233.1:p.Phe161Val
NM_001354304.2:c.481T>G NP_001341233.1:p.Phe161Val
ENST00000307000.7:c.466T>G ENSP00000303500.2:p.Phe156Val
ENST00000549111.5:n.577T>G
ENST00000551988.5:n.530+10838T>G
ENST00000553106.5:c.481T>G ENSP00000448059.1:p.Phe161Val
XM_011538422.1:c.481T>G XP_011536724.1:p.Phe161Val
XM_017019370.2:c.481T>G XP_016874859.1:p.Phe161Val
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