Canonical Allele Identifier: CA6748916
Community Standard Title: NM_000277.3(PAH):c.484G>T (p.Ala162Ser)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866621C>A , CM000674.2:g.102866621C>A GRCh38
NC_000012.11:g.103260399C>A , CM000674.1:g.103260399C>A GRCh37
NC_000012.10:g.101784529C>A NCBI36
NG_008690.1:g.55982G>T
NG_008690.2:g.96790G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.484G>T MANE Select NP_000268.1:p.Ala162Ser
ENST00000553106.6:c.484G>T MANE Select ENSP00000448059.1:p.Ala162Ser
NM_000277.1:c.484G>T NP_000268.1:p.Ala162Ser
NM_000277.2:c.484G>T NP_000268.1:p.Ala162Ser
NM_001354304.1:c.484G>T NP_001341233.1:p.Ala162Ser
NM_001354304.2:c.484G>T NP_001341233.1:p.Ala162Ser
ENST00000307000.7:c.469G>T ENSP00000303500.2:p.Ala157Ser
ENST00000549111.5:n.580G>T
ENST00000551988.5:n.530+10841G>T
ENST00000553106.5:c.484G>T ENSP00000448059.1:p.Ala162Ser
XM_011538422.1:c.484G>T XP_011536724.1:p.Ala162Ser
XM_017019370.2:c.484G>T XP_016874859.1:p.Ala162Ser
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