Canonical Allele Identifier: CA2843143544

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877411dup , CM000674.2:g.102877411dup	GRCh38
NC_000012.11:g.103271189dup , CM000674.1:g.103271189dup	GRCh37
NC_000012.10:g.101795319dup	NCBI36
NG_008690.1:g.45195dup
NG_008690.2:g.86003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+54dup MANE Select	ENSP00000448059.1:n.441+54dup
ENST00000307000.7:c.426+54dup	ENSP00000303500.2:n.426+54dup
ENST00000549111.5:n.537+54dup
ENST00000550978.6:c.479dup
ENST00000551988.5:n.530+54dup
ENST00000553106.5:c.441+54dup	ENSP00000448059.1:n.441+54dup
NM_000277.1:c.441+54dup	NP_000268.1:n.441+54dup
XM_011538422.1:c.441+54dup	XP_011536724.1:n.441+54dup
NM_000277.2:c.441+54dup	NP_000268.1:n.441+54dup
NM_001354304.1:c.441+54dup	NP_001341233.1:n.441+54dup
XM_017019370.2:c.441+54dup	XP_016874859.1:n.441+54dup
NM_000277.3:c.441+54dup MANE Select	NP_000268.1:n.441+54dup
NM_001354304.2:c.441+54dup	NP_001341233.1:n.441+54dup