Canonical Allele Identifier: CA481375791

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238195A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844417A>T , CM000674.2:g.102844417A>T	GRCh38
NC_000012.11:g.103238195A>T , CM000674.1:g.103238195A>T	GRCh37
NC_000012.10:g.101762325A>T	NCBI36
NG_008690.1:g.78186T>A
NG_008690.2:g.118994T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.984T>A MANE Select	ENSP00000448059.1:p.Thr328=
ENST00000307000.7:c.969T>A	ENSP00000303500.2:p.Thr323=
ENST00000549247.6:n.743T>A
ENST00000551114.2:n.646T>A
ENST00000553106.5:c.984T>A	ENSP00000448059.1:p.Thr328=
ENST00000635477.1:c.88T>A
ENST00000635528.1:n.499T>A
NM_000277.1:c.984T>A	NP_000268.1:p.Thr328=
XM_011538422.1:c.927T>A	XP_011536724.1:p.Thr309=
NM_000277.2:c.984T>A	NP_000268.1:p.Thr328=
NM_001354304.1:c.984T>A	NP_001341233.1:p.Thr328=
NM_000277.3:c.984T>A MANE Select	NP_000268.1:p.Thr328=
NM_001354304.2:c.984T>A	NP_001341233.1:p.Thr328=