Canonical Allele Identifier: CA2059462452
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877458T= , CM000674.2:g.102877458T= GRCh38
NC_000012.11:g.103271236T= , CM000674.1:g.103271236T= GRCh37
NC_000012.10:g.101795366T= NCBI36
NG_008690.1:g.45145A=
NG_008690.2:g.85953A=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+4A= MANE Select ENSP00000448059.1:n.441+4A=
ENST00000307000.7:c.426+4A= ENSP00000303500.2:n.426+4A=
ENST00000549111.5:n.537+4A=
ENST00000550978.6:c.429A=
ENST00000551988.5:n.530+4A=
ENST00000553106.5:c.441+4A= ENSP00000448059.1:n.441+4A=
NM_000277.1:c.441+4A= NP_000268.1:n.441+4A=
XM_011538422.1:c.441+4A= XP_011536724.1:n.441+4A=
NM_000277.2:c.441+4A= NP_000268.1:n.441+4A=
NM_001354304.1:c.441+4A= NP_001341233.1:n.441+4A=
XM_017019370.2:c.441+4A= XP_016874859.1:n.441+4A=
NM_000277.3:c.441+4A= MANE Select NP_000268.1:n.441+4A=
NM_001354304.2:c.441+4A= NP_001341233.1:n.441+4A=
Search 100 bp 5'
Search 100 bp 3'