Canonical Allele Identifier: CA481375389

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234275T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840497T>A , CM000674.2:g.102840497T>A	GRCh38
NC_000012.11:g.103234275T>A , CM000674.1:g.103234275T>A	GRCh37
NC_000012.10:g.101758405T>A	NCBI36
NG_008690.1:g.82106A>T
NG_008690.2:g.122914A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1218A>T MANE Select	ENSP00000448059.1:p.Ile406=
ENST00000307000.7:c.1203A>T	ENSP00000303500.2:p.Ile401=
ENST00000551114.2:n.880A>T
ENST00000553106.5:c.1218A>T	ENSP00000448059.1:p.Ile406=
ENST00000635477.1:c.322A>T
ENST00000635528.1:n.733A>T
NM_000277.1:c.1218A>T	NP_000268.1:p.Ile406=
XM_011538422.1:c.1161A>T	XP_011536724.1:p.Ile387=
NM_000277.2:c.1218A>T	NP_000268.1:p.Ile406=
NM_001354304.1:c.1218A>T	NP_001341233.1:p.Ile406=
NM_000277.3:c.1218A>T MANE Select	NP_000268.1:p.Ile406=
NM_001354304.2:c.1218A>T	NP_001341233.1:p.Ile406=