Canonical Allele Identifier: CA386291569
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846907T>G , CM000674.2:g.102846907T>G GRCh38
NC_000012.11:g.103240685T>G , CM000674.1:g.103240685T>G GRCh37
NC_000012.10:g.101764815T>G NCBI36
NG_008690.1:g.75696A>C
NG_008690.2:g.116504A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.957A>C MANE Select ENSP00000448059.1:p.Glu319Asp
ENST00000307000.7:c.942A>C ENSP00000303500.2:p.Glu314Asp
ENST00000549247.6:n.716A>C
ENST00000551114.2:n.619A>C
ENST00000553106.5:c.957A>C ENSP00000448059.1:p.Glu319Asp
ENST00000635477.1:n.74-2476A>C
ENST00000635528.1:n.472A>C
NM_000277.1:c.957A>C NP_000268.1:p.Glu319Asp
XM_011538422.1:c.913-2476A>C XP_011536724.1:n.913-2476A>C
NM_000277.2:c.957A>C NP_000268.1:p.Glu319Asp
NM_001354304.1:c.957A>C NP_001341233.1:p.Glu319Asp
NM_000277.3:c.957A>C MANE Select NP_000268.1:p.Glu319Asp
NM_001354304.2:c.957A>C NP_001341233.1:p.Glu319Asp