Canonical Allele Identifier: CA386294437

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103245513C>A (hg19) ; chr12:g.102851735C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851735C>A , CM000674.2:g.102851735C>A	GRCh38
NC_000012.11:g.103245513C>A , CM000674.1:g.103245513C>A	GRCh37
NC_000012.10:g.101769643C>A	NCBI36
NG_008690.1:g.70868G>T
NG_008690.2:g.111676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.864G>T MANE Select	ENSP00000448059.1:p.Leu288Phe
ENST00000307000.7:c.849G>T	ENSP00000303500.2:p.Leu283Phe
ENST00000549247.6:n.623G>T
ENST00000551114.2:n.526G>T
ENST00000553106.5:c.864G>T	ENSP00000448059.1:p.Leu288Phe
ENST00000635477.1:c.25G>T
NM_000277.1:c.864G>T	NP_000268.1:p.Leu288Phe
XM_011538422.1:c.864G>T	XP_011536724.1:p.Leu288Phe
NM_000277.2:c.864G>T	NP_000268.1:p.Leu288Phe
NM_001354304.1:c.864G>T	NP_001341233.1:p.Leu288Phe
NM_000277.3:c.864G>T MANE Select	NP_000268.1:p.Leu288Phe
NM_001354304.2:c.864G>T	NP_001341233.1:p.Leu288Phe