Canonical Allele Identifier: CA229859
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102902
dbSNP Id: rs62642912

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846927C>T , CM000674.2:g.102846927C>T GRCh38
NC_000012.11:g.103240705C>T , CM000674.1:g.103240705C>T GRCh37
NC_000012.10:g.101764835C>T NCBI36
NG_008690.1:g.75676G>A
NG_008690.2:g.116484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.937G>A MANE Select ENSP00000448059.1:p.Ala313Thr
ENST00000307000.7:c.922G>A ENSP00000303500.2:p.Ala308Thr
ENST00000549247.6:n.696G>A
ENST00000551114.2:n.599G>A
ENST00000553106.5:c.937G>A ENSP00000448059.1:p.Ala313Thr
ENST00000635477.1:c.74-2496G>A
ENST00000635528.1:n.452G>A
NM_000277.1:c.937G>A NP_000268.1:p.Ala313Thr
XM_011538422.1:c.913-2496G>A XP_011536724.1:n.913-2496G>A
NM_000277.2:c.937G>A NP_000268.1:p.Ala313Thr
NM_001354304.1:c.937G>A NP_001341233.1:p.Ala313Thr
NM_000277.3:c.937G>A MANE Select NP_000268.1:p.Ala313Thr
NM_001354304.2:c.937G>A NP_001341233.1:p.Ala313Thr