Canonical Allele Identifier: CA2843248126

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852953G>T , CM000674.2:g.102852953G>T	GRCh38
NC_000012.11:g.103246731G>T , CM000674.1:g.103246731G>T	GRCh37
NC_000012.10:g.101770861G>T	NCBI36
NG_008690.1:g.69650C>A
NG_008690.2:g.110458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.707-3C>A MANE Select	ENSP00000448059.1:n.707-3C>A
ENST00000307000.7:c.692-3C>A	ENSP00000303500.2:n.692-3C>A
ENST00000549247.6:n.463C>A
ENST00000553106.5:c.707-3C>A	ENSP00000448059.1:n.707-3C>A
NM_000277.1:c.707-3C>A	NP_000268.1:n.707-3C>A
XM_011538422.1:c.707-3C>A	XP_011536724.1:n.707-3C>A
NM_000277.2:c.707-3C>A	NP_000268.1:n.707-3C>A
NM_001354304.1:c.707-3C>A	NP_001341233.1:n.707-3C>A
NM_000277.3:c.707-3C>A MANE Select	NP_000268.1:n.707-3C>A
NM_001354304.2:c.707-3C>A	NP_001341233.1:n.707-3C>A