Canonical Allele Identifier: CA481330945

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103240718A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102846940A>T , CM000674.2:g.102846940A>T	GRCh38
NC_000012.11:g.103240718A>T , CM000674.1:g.103240718A>T	GRCh37
NC_000012.10:g.101764848A>T	NCBI36
NG_008690.1:g.75663T>A
NG_008690.2:g.116471T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.924T>A MANE Select	ENSP00000448059.1:p.Leu308=
ENST00000307000.7:c.909T>A	ENSP00000303500.2:p.Leu303=
ENST00000549247.6:n.683T>A
ENST00000551114.2:n.586T>A
ENST00000553106.5:c.924T>A	ENSP00000448059.1:p.Leu308=
ENST00000635477.1:c.74-2509T>A
ENST00000635528.1:n.439T>A
NM_000277.1:c.924T>A	NP_000268.1:p.Leu308=
XM_011538422.1:c.913-2509T>A	XP_011536724.1:n.913-2509T>A
NM_000277.2:c.924T>A	NP_000268.1:p.Leu308=
NM_001354304.1:c.924T>A	NP_001341233.1:p.Leu308=
NM_000277.3:c.924T>A MANE Select	NP_000268.1:p.Leu308=
NM_001354304.2:c.924T>A	NP_001341233.1:p.Leu308=