Canonical Allele Identifier: CA2059462454
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877460A= , CM000674.2:g.102877460A= GRCh38
NC_000012.11:g.103271238A= , CM000674.1:g.103271238A= GRCh37
NC_000012.10:g.101795368A= NCBI36
NG_008690.1:g.45143T=
NG_008690.2:g.85951T=

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.441+2T= MANE Select ENSP00000448059.1:n.441+2T=
ENST00000307000.7:c.426+2T= ENSP00000303500.2:n.426+2T=
ENST00000549111.5:n.537+2T=
ENST00000550978.6:c.427T=
ENST00000551988.5:n.530+2T=
ENST00000553106.5:c.441+2T= ENSP00000448059.1:n.441+2T=
NM_000277.1:c.441+2T= NP_000268.1:n.441+2T=
XM_011538422.1:c.441+2T= XP_011536724.1:n.441+2T=
NM_000277.2:c.441+2T= NP_000268.1:n.441+2T=
NM_001354304.1:c.441+2T= NP_001341233.1:n.441+2T=
XM_017019370.2:c.441+2T= XP_016874859.1:n.441+2T=
NM_000277.3:c.441+2T= MANE Select NP_000268.1:n.441+2T=
NM_001354304.2:c.441+2T= NP_001341233.1:n.441+2T=