Canonical Allele Identifier: CA386299731

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866664C>A , CM000674.2:g.102866664C>A	GRCh38
NC_000012.11:g.103260442C>A , CM000674.1:g.103260442C>A	GRCh37
NC_000012.10:g.101784572C>A	NCBI36
NG_008690.1:g.55939G>T
NG_008690.2:g.96747G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.442-1G>T MANE Select	NP_000268.1:n.442-1G>T
ENST00000553106.6:c.442-1G>T MANE Select	ENSP00000448059.1:n.442-1G>T
NM_000277.1:c.442-1G>T	NP_000268.1:n.442-1G>T
NM_000277.2:c.442-1G>T	NP_000268.1:n.442-1G>T
NM_001354304.1:c.442-1G>T	NP_001341233.1:n.442-1G>T
NM_001354304.2:c.442-1G>T	NP_001341233.1:n.442-1G>T
ENST00000307000.7:c.427-1G>T	ENSP00000303500.2:n.427-1G>T
ENST00000549111.5:n.538-1G>T
ENST00000551988.5:n.530+10798G>T
ENST00000553106.5:c.442-1G>T	ENSP00000448059.1:n.442-1G>T
XM_011538422.1:c.442-1G>T	XP_011536724.1:n.442-1G>T
XM_017019370.2:c.442-1G>T	XP_016874859.1:n.442-1G>T