Canonical Allele Identifier: CA16020997

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102839216C>A , CM000674.2:g.102839216C>A	GRCh38
NC_000012.11:g.103232994C>A , CM000674.1:g.103232994C>A	GRCh37
NC_000012.10:g.101757124C>A	NCBI36
NG_008690.1:g.83387G>T
NG_008690.2:g.124195G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.1318G>T MANE Select	NP_000268.1:p.Glu440Ter
ENST00000553106.6:c.1318G>T MANE Select	ENSP00000448059.1:p.Glu440Ter
NM_000277.1:c.1318G>T	NP_000268.1:p.Glu440Ter
NM_000277.2:c.1318G>T	NP_000268.1:p.Glu440Ter
NM_001354304.1:c.1318G>T	NP_001341233.1:p.Glu440Ter
NM_001354304.2:c.1318G>T	NP_001341233.1:p.Glu440Ter
ENST00000307000.7:c.1303G>T	ENSP00000303500.2:p.Glu435Ter
ENST00000551114.2:n.980G>T
ENST00000553106.5:c.1318G>T	ENSP00000448059.1:p.Glu440Ter
ENST00000635477.1:c.422G>T
ENST00000635528.1:n.833G>T
XM_011538422.1:c.1261G>T	XP_011536724.1:p.Glu421Ter