Canonical Allele Identifier: CA2059441480
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840408G= , CM000674.2:g.102840408G= GRCh38
NC_000012.11:g.103234186G= , CM000674.1:g.103234186G= GRCh37
NC_000012.10:g.101758316G= NCBI36
NG_008690.1:g.82195C=
NG_008690.2:g.123003C=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1307C= MANE Select ENSP00000448059.1:p.Ser436=
ENST00000307000.7:c.1292C= ENSP00000303500.2:p.Ser431=
ENST00000551114.2:n.969C=
ENST00000553106.5:c.1307C= ENSP00000448059.1:p.Ser436=
ENST00000635477.1:n.411C=
ENST00000635528.1:n.822C=
NM_000277.1:c.1307C= NP_000268.1:p.Ser436=
XM_011538422.1:c.1250C= XP_011536724.1:p.Ser417=
NM_000277.2:c.1307C= NP_000268.1:p.Ser436=
NM_001354304.1:c.1307C= NP_001341233.1:p.Ser436=
NM_000277.3:c.1307C= MANE Select NP_000268.1:p.Ser436=
NM_001354304.2:c.1307C= NP_001341233.1:p.Ser436=