Canonical Allele Identifier: CA481375786

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103238192C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844414C>A , CM000674.2:g.102844414C>A	GRCh38
NC_000012.11:g.103238192C>A , CM000674.1:g.103238192C>A	GRCh37
NC_000012.10:g.101762322C>A	NCBI36
NG_008690.1:g.78189G>T
NG_008690.2:g.118997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.987G>T MANE Select	ENSP00000448059.1:p.Val329=
ENST00000307000.7:c.972G>T	ENSP00000303500.2:p.Val324=
ENST00000549247.6:n.746G>T
ENST00000551114.2:n.649G>T
ENST00000553106.5:c.987G>T	ENSP00000448059.1:p.Val329=
ENST00000635477.1:c.91G>T
ENST00000635528.1:n.502G>T
NM_000277.1:c.987G>T	NP_000268.1:p.Val329=
XM_011538422.1:c.930G>T	XP_011536724.1:p.Val310=
NM_000277.2:c.987G>T	NP_000268.1:p.Val329=
NM_001354304.1:c.987G>T	NP_001341233.1:p.Val329=
NM_000277.3:c.987G>T MANE Select	NP_000268.1:p.Val329=
NM_001354304.2:c.987G>T	NP_001341233.1:p.Val329=