Canonical Allele Identifier: CA386294565

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852843C>T , CM000674.2:g.102852843C>T	GRCh38
NC_000012.11:g.103246621C>T , CM000674.1:g.103246621C>T	GRCh37
NC_000012.10:g.101770751C>T	NCBI36
NG_008690.1:g.69760G>A
NG_008690.2:g.110568G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.814G>A MANE Select	NP_000268.1:p.Gly272Arg
ENST00000553106.6:c.814G>A MANE Select	ENSP00000448059.1:p.Gly272Arg
NM_000277.1:c.814G>A	NP_000268.1:p.Gly272Arg
NM_000277.2:c.814G>A	NP_000268.1:p.Gly272Arg
NM_001354304.1:c.814G>A	NP_001341233.1:p.Gly272Arg
NM_001354304.2:c.814G>A	NP_001341233.1:p.Gly272Arg
ENST00000307000.7:c.799G>A	ENSP00000303500.2:p.Gly267Arg
ENST00000549247.6:n.573G>A
ENST00000553106.5:c.814G>A	ENSP00000448059.1:p.Gly272Arg
XM_011538422.1:c.814G>A	XP_011536724.1:p.Gly272Arg