Canonical Allele Identifier: CA386294529
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852817T>A , CM000674.2:g.102852817T>A GRCh38
NC_000012.11:g.103246595T>A , CM000674.1:g.103246595T>A GRCh37
NC_000012.10:g.101770725T>A NCBI36
NG_008690.1:g.69786A>T
NG_008690.2:g.110594A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.840A>T MANE Select ENSP00000448059.1:p.Glu280Asp
ENST00000307000.7:c.825A>T ENSP00000303500.2:p.Glu275Asp
ENST00000549247.6:n.599A>T
ENST00000553106.5:c.840A>T ENSP00000448059.1:p.Glu280Asp
ENST00000635477.1:c.1A>T
NM_000277.1:c.840A>T NP_000268.1:p.Glu280Asp
XM_011538422.1:c.840A>T XP_011536724.1:p.Glu280Asp
NM_000277.2:c.840A>T NP_000268.1:p.Glu280Asp
NM_001354304.1:c.840A>T NP_001341233.1:p.Glu280Asp
NM_000277.3:c.840A>T MANE Select NP_000268.1:p.Glu280Asp
NM_001354304.2:c.840A>T NP_001341233.1:p.Glu280Asp