Canonical Allele Identifier: CA386302223
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877523T>G , CM000674.2:g.102877523T>G GRCh38
NC_000012.11:g.103271301T>G , CM000674.1:g.103271301T>G GRCh37
NC_000012.10:g.101795431T>G NCBI36
NG_008690.1:g.45080A>C
NG_008690.2:g.85888A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.380A>C MANE Select ENSP00000448059.1:p.Glu127Ala
ENST00000307000.7:c.365A>C ENSP00000303500.2:p.Glu122Ala
ENST00000549111.5:n.476A>C
ENST00000550978.6:c.364A>C
ENST00000551337.5:c.380A>C ENSP00000447620.1:p.Glu127Ala
ENST00000551988.5:n.469A>C
ENST00000553106.5:c.380A>C ENSP00000448059.1:p.Glu127Ala
NM_000277.1:c.380A>C NP_000268.1:p.Glu127Ala
XM_011538422.1:c.380A>C XP_011536724.1:p.Glu127Ala
NM_000277.2:c.380A>C NP_000268.1:p.Glu127Ala
NM_001354304.1:c.380A>C NP_001341233.1:p.Glu127Ala
XM_017019370.2:c.380A>C XP_016874859.1:p.Glu127Ala
NM_000277.3:c.380A>C MANE Select NP_000268.1:p.Glu127Ala
NM_001354304.2:c.380A>C NP_001341233.1:p.Glu127Ala