Canonical Allele Identifier: CA2575266818

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843590G>A , CM000674.2:g.102843590G>A	GRCh38
NC_000012.11:g.103237368G>A , CM000674.1:g.103237368G>A	GRCh37
NC_000012.10:g.101761498G>A	NCBI36
NG_008690.1:g.79013C>T
NG_008690.2:g.119821C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1199+56C>T MANE Select	ENSP00000448059.1:n.1199+56C>T
ENST00000307000.7:c.1184+56C>T	ENSP00000303500.2:n.1184+56C>T
ENST00000549247.6:n.958+56C>T
ENST00000551114.2:n.861+56C>T
ENST00000553106.5:c.1199+56C>T	ENSP00000448059.1:n.1199+56C>T
ENST00000635477.1:c.303+56C>T
ENST00000635528.1:n.714+56C>T
NM_000277.1:c.1199+56C>T	NP_000268.1:n.1199+56C>T
XM_011538422.1:c.1142+56C>T	XP_011536724.1:n.1142+56C>T
NM_000277.2:c.1199+56C>T	NP_000268.1:n.1199+56C>T
NM_001354304.1:c.1199+56C>T	NP_001341233.1:n.1199+56C>T
NM_000277.3:c.1199+56C>T MANE Select	NP_000268.1:n.1199+56C>T
NM_001354304.2:c.1199+56C>T	NP_001341233.1:n.1199+56C>T