Canonical Allele Identifier: CA2575266870

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851832G>T , CM000674.2:g.102851832G>T	GRCh38
NC_000012.11:g.103245610G>T , CM000674.1:g.103245610G>T	GRCh37
NC_000012.10:g.101769740G>T	NCBI36
NG_008690.1:g.70771C>A
NG_008690.2:g.111579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-76C>A MANE Select	ENSP00000448059.1:n.843-76C>A
ENST00000307000.7:c.828-76C>A	ENSP00000303500.2:n.828-76C>A
ENST00000549247.6:n.602-76C>A
ENST00000551114.2:n.429C>A
ENST00000553106.5:c.843-76C>A	ENSP00000448059.1:n.843-76C>A
ENST00000635477.1:c.4-76C>A
NM_000277.1:c.843-76C>A	NP_000268.1:n.843-76C>A
XM_011538422.1:c.843-76C>A	XP_011536724.1:n.843-76C>A
NM_000277.2:c.843-76C>A	NP_000268.1:n.843-76C>A
NM_001354304.1:c.843-76C>A	NP_001341233.1:n.843-76C>A
NM_000277.3:c.843-76C>A MANE Select	NP_000268.1:n.843-76C>A
NM_001354304.2:c.843-76C>A	NP_001341233.1:n.843-76C>A