Canonical Allele Identifier: CA6748788
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs62642912

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.937G>T MANE Select ENSP00000448059.1:p.Ala313Ser
ENST00000307000.7:c.922G>T ENSP00000303500.2:p.Ala308Ser
ENST00000549247.6:n.696G>T
ENST00000551114.2:n.599G>T
ENST00000553106.5:c.937G>T ENSP00000448059.1:p.Ala313Ser
ENST00000635477.1:c.74-2496G>T
ENST00000635528.1:n.452G>T
NM_000277.1:c.937G>T NP_000268.1:p.Ala313Ser
XM_011538422.1:c.913-2496G>T XP_011536724.1:n.913-2496G>T
NM_000277.2:c.937G>T NP_000268.1:p.Ala313Ser
NM_001354304.1:c.937G>T NP_001341233.1:p.Ala313Ser
NM_000277.3:c.937G>T MANE Select NP_000268.1:p.Ala313Ser
NM_001354304.2:c.937G>T NP_001341233.1:p.Ala313Ser