Canonical Allele Identifier: CA242743411
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs776064023

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840401G>A , CM000674.2:g.102840401G>A GRCh38
NC_000012.11:g.103234179G>A , CM000674.1:g.103234179G>A GRCh37
NC_000012.10:g.101758309G>A NCBI36
NG_008690.1:g.82202C>T
NG_008690.2:g.123010C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1314C>T MANE Select ENSP00000448059.1:p.Asn438=
ENST00000307000.7:c.1299C>T ENSP00000303500.2:p.Asn433=
ENST00000551114.2:n.976C>T
ENST00000553106.5:c.1314C>T ENSP00000448059.1:p.Asn438=
ENST00000635477.1:c.418C>T
ENST00000635528.1:n.829C>T
NM_000277.1:c.1314C>T NP_000268.1:p.Asn438=
XM_011538422.1:c.1257C>T XP_011536724.1:p.Asn419=
NM_000277.2:c.1314C>T NP_000268.1:p.Asn438=
NM_001354304.1:c.1314C>T NP_001341233.1:p.Asn438=
NM_000277.3:c.1314C>T MANE Select NP_000268.1:p.Asn438=
NM_001354304.2:c.1314C>T NP_001341233.1:p.Asn438=