Canonical Allele Identifier: CA2059448426
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844400C= , CM000674.2:g.102844400C= GRCh38
NC_000012.11:g.103238178C= , CM000674.1:g.103238178C= GRCh37
NC_000012.10:g.101762308C= NCBI36
NG_008690.1:g.78203G=
NG_008690.2:g.119011G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1001G= MANE Select ENSP00000448059.1:p.Cys334=
ENST00000307000.7:c.986G= ENSP00000303500.2:p.Cys329=
ENST00000549247.6:n.760G=
ENST00000551114.2:n.663G=
ENST00000553106.5:c.1001G= ENSP00000448059.1:p.Cys334=
ENST00000635477.1:c.105G=
ENST00000635528.1:n.516G=
NM_000277.1:c.1001G= NP_000268.1:p.Cys334=
XM_011538422.1:c.944G= XP_011536724.1:p.Cys315=
NM_000277.2:c.1001G= NP_000268.1:p.Cys334=
NM_001354304.1:c.1001G= NP_001341233.1:p.Cys334=
NM_000277.3:c.1001G= MANE Select NP_000268.1:p.Cys334=
NM_001354304.2:c.1001G= NP_001341233.1:p.Cys334=
Search 100 bp 5'
Search 100 bp 3'