Canonical Allele Identifier: CA481332100
Community Standard Title: NM_000277.3(PAH):c.480G>A (p.Gln160=)
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866625C>T , CM000674.2:g.102866625C>T GRCh38
NC_000012.11:g.103260403C>T , CM000674.1:g.103260403C>T GRCh37
NC_000012.10:g.101784533C>T NCBI36
NG_008690.1:g.55978G>A
NG_008690.2:g.96786G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.480G>A MANE Select NP_000268.1:p.Gln160=
ENST00000553106.6:c.480G>A MANE Select ENSP00000448059.1:p.Gln160=
NM_000277.1:c.480G>A NP_000268.1:p.Gln160=
NM_000277.2:c.480G>A NP_000268.1:p.Gln160=
NM_001354304.1:c.480G>A NP_001341233.1:p.Gln160=
NM_001354304.2:c.480G>A NP_001341233.1:p.Gln160=
ENST00000307000.7:c.465G>A ENSP00000303500.2:p.Gln155=
ENST00000549111.5:n.576G>A
ENST00000551988.5:n.530+10837G>A
ENST00000553106.5:c.480G>A ENSP00000448059.1:p.Gln160=
XM_011538422.1:c.480G>A XP_011536724.1:p.Gln160=
XM_017019370.2:c.480G>A XP_016874859.1:p.Gln160=