Canonical Allele Identifier: CA2059449518
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855239A= , CM000674.2:g.102855239A= GRCh38
NC_000012.11:g.103249017A= , CM000674.1:g.103249017A= GRCh37
NC_000012.10:g.101773147A= NCBI36
NG_008690.1:g.67364T=
NG_008690.2:g.108172T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.603T= MANE Select ENSP00000448059.1:p.His201=
ENST00000307000.7:c.588T= ENSP00000303500.2:p.His196=
ENST00000549111.5:n.699T=
ENST00000553106.5:c.603T= ENSP00000448059.1:p.His201=
NM_000277.1:c.603T= NP_000268.1:p.His201=
XM_011538422.1:c.603T= XP_011536724.1:p.His201=
NM_000277.2:c.603T= NP_000268.1:p.His201=
NM_001354304.1:c.603T= NP_001341233.1:p.His201=
XM_017019370.2:c.603T= XP_016874859.1:p.His201=
NM_000277.3:c.603T= MANE Select NP_000268.1:p.His201=
NM_001354304.2:c.603T= NP_001341233.1:p.His201=
Search 100 bp 5'
Search 100 bp 3'