Canonical Allele Identifier: CA481375390

Gene: PAH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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