Canonical Allele Identifier: CA2059451409
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846930C= , CM000674.2:g.102846930C= GRCh38
NC_000012.11:g.103240708C= , CM000674.1:g.103240708C= GRCh37
NC_000012.10:g.101764838C= NCBI36
NG_008690.1:g.75673G=
NG_008690.2:g.116481G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.934G= MANE Select ENSP00000448059.1:p.Gly312=
ENST00000307000.7:c.919G= ENSP00000303500.2:p.Gly307=
ENST00000549247.6:n.693G=
ENST00000551114.2:n.596G=
ENST00000553106.5:c.934G= ENSP00000448059.1:p.Gly312=
ENST00000635477.1:c.74-2499G=
ENST00000635528.1:n.449G=
NM_000277.1:c.934G= NP_000268.1:p.Gly312=
XM_011538422.1:c.913-2499G= XP_011536724.1:n.913-2499G=
NM_000277.2:c.934G= NP_000268.1:p.Gly312=
NM_001354304.1:c.934G= NP_001341233.1:p.Gly312=
NM_000277.3:c.934G= MANE Select NP_000268.1:p.Gly312=
NM_001354304.2:c.934G= NP_001341233.1:p.Gly312=