Canonical Allele Identifier: CA2059449254
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855183T= , CM000674.2:g.102855183T= GRCh38
NC_000012.11:g.103248961T= , CM000674.1:g.103248961T= GRCh37
NC_000012.10:g.101773091T= NCBI36
NG_008690.1:g.67420A=
NG_008690.2:g.108228A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.659A= MANE Select ENSP00000448059.1:p.His220=
ENST00000307000.7:c.644A= ENSP00000303500.2:p.His215=
ENST00000549111.5:n.755A=
ENST00000553106.5:c.659A= ENSP00000448059.1:p.His220=
NM_000277.1:c.659A= NP_000268.1:p.His220=
XM_011538422.1:c.659A= XP_011536724.1:p.His220=
NM_000277.2:c.659A= NP_000268.1:p.His220=
NM_001354304.1:c.659A= NP_001341233.1:p.His220=
XM_017019370.2:c.659A= XP_016874859.1:p.His220=
NM_000277.3:c.659A= MANE Select NP_000268.1:p.His220=
NM_001354304.2:c.659A= NP_001341233.1:p.His220=