Canonical Allele Identifier: CA6748767

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844391C>T , CM000674.2:g.102844391C>T	GRCh38
NC_000012.11:g.103238169C>T , CM000674.1:g.103238169C>T	GRCh37
NC_000012.10:g.101762299C>T	NCBI36
NG_008690.1:g.78212G>A
NG_008690.2:g.119020G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.1010G>A MANE Select	NP_000268.1:p.Gly337Glu
ENST00000553106.6:c.1010G>A MANE Select	ENSP00000448059.1:p.Gly337Glu
NM_000277.1:c.1010G>A	NP_000268.1:p.Gly337Glu
NM_000277.2:c.1010G>A	NP_000268.1:p.Gly337Glu
NM_001354304.1:c.1010G>A	NP_001341233.1:p.Gly337Glu
NM_001354304.2:c.1010G>A	NP_001341233.1:p.Gly337Glu
ENST00000307000.7:c.995G>A	ENSP00000303500.2:p.Gly332Glu
ENST00000549247.6:n.769G>A
ENST00000551114.2:n.672G>A
ENST00000553106.5:c.1010G>A	ENSP00000448059.1:p.Gly337Glu
ENST00000635477.1:c.114G>A
ENST00000635528.1:n.525G>A
XM_011538422.1:c.953G>A	XP_011536724.1:p.Gly318Glu