Canonical Allele Identifier: CA2846857798

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102916917T>C , CM000674.2:g.102916917T>C	GRCh38
NC_000012.11:g.103310695T>C , CM000674.1:g.103310695T>C	GRCh37
NC_000012.10:g.101834825T>C	NCBI36
NG_008690.1:g.5686A>G
NG_008690.2:g.46494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.60+154A>G MANE Select	ENSP00000448059.1:n.60+154A>G
ENST00000307000.7:c.-88+154A>G	ENSP00000303500.2:n.-88+154A>G
ENST00000546844.1:c.60+154A>G	ENSP00000446658.1:n.60+154A>G
ENST00000547319.1:n.371+154A>G
ENST00000549111.5:n.156+154A>G
ENST00000550978.6:c.44+154A>G
ENST00000551337.5:c.60+154A>G	ENSP00000447620.1:n.60+154A>G
ENST00000551988.5:n.149+154A>G
ENST00000553106.5:c.60+154A>G	ENSP00000448059.1:n.60+154A>G
ENST00000635500.1:n.29-4019A>G
NM_000277.1:c.60+154A>G	NP_000268.1:n.60+154A>G
XM_011538422.1:c.60+154A>G	XP_011536724.1:n.60+154A>G
NM_000277.2:c.60+154A>G	NP_000268.1:n.60+154A>G
NM_001354304.1:c.60+154A>G	NP_001341233.1:n.60+154A>G
XM_017019370.2:c.60+154A>G	XP_016874859.1:n.60+154A>G
NM_000277.3:c.60+154A>G MANE Select	NP_000268.1:n.60+154A>G
NM_001354304.2:c.60+154A>G	NP_001341233.1:n.60+154A>G