Canonical Allele Identifier: CA386291637
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1474010
ClinVar RCV Id: RCV001970975
dbSNP Id: rs1180470263

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846919A>T , CM000674.2:g.102846919A>T GRCh38
NC_000012.11:g.103240697A>T , CM000674.1:g.103240697A>T GRCh37
NC_000012.10:g.101764827A>T NCBI36
NG_008690.1:g.75684T>A
NG_008690.2:g.116492T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.945T>A MANE Select ENSP00000448059.1:p.Asp315Glu
ENST00000307000.7:c.930T>A ENSP00000303500.2:p.Asp310Glu
ENST00000549247.6:n.704T>A
ENST00000551114.2:n.607T>A
ENST00000553106.5:c.945T>A ENSP00000448059.1:p.Asp315Glu
ENST00000635477.1:c.74-2488T>A
ENST00000635528.1:n.460T>A
NM_000277.1:c.945T>A NP_000268.1:p.Asp315Glu
XM_011538422.1:c.913-2488T>A XP_011536724.1:n.913-2488T>A
NM_000277.2:c.945T>A NP_000268.1:p.Asp315Glu
NM_001354304.1:c.945T>A NP_001341233.1:p.Asp315Glu
NM_000277.3:c.945T>A MANE Select NP_000268.1:p.Asp315Glu
NM_001354304.2:c.945T>A NP_001341233.1:p.Asp315Glu