Canonical Allele Identifier: CA481331295

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103245486G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851708G>A , CM000674.2:g.102851708G>A	GRCh38
NC_000012.11:g.103245486G>A , CM000674.1:g.103245486G>A	GRCh37
NC_000012.10:g.101769616G>A	NCBI36
NG_008690.1:g.70895C>T
NG_008690.2:g.111703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.891C>T MANE Select	ENSP00000448059.1:p.Arg297=
ENST00000307000.7:c.876C>T	ENSP00000303500.2:p.Arg292=
ENST00000549247.6:n.650C>T
ENST00000551114.2:n.553C>T
ENST00000553106.5:c.891C>T	ENSP00000448059.1:p.Arg297=
ENST00000635477.1:c.52C>T
NM_000277.1:c.891C>T	NP_000268.1:p.Arg297=
XM_011538422.1:c.891C>T	XP_011536724.1:p.Arg297=
NM_000277.2:c.891C>T	NP_000268.1:p.Arg297=
NM_001354304.1:c.891C>T	NP_001341233.1:p.Arg297=
NM_000277.3:c.891C>T MANE Select	NP_000268.1:p.Arg297=
NM_001354304.2:c.891C>T	NP_001341233.1:p.Arg297=