Canonical Allele Identifier: CA386294372

Gene: PAH

Linked Data

• ClinVar Variation Id: 578020
• ClinVar RCV Id: RCV000700907 ; RCV003352994
• dbSNP Id: rs1565846198
• MyVariant Identifiers: chr12:g.103245497A>T (hg19) ; chr12:g.102851719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851719A>T , CM000674.2:g.102851719A>T	GRCh38
NC_000012.11:g.103245497A>T , CM000674.1:g.103245497A>T	GRCh37
NC_000012.10:g.101769627A>T	NCBI36
NG_008690.1:g.70884T>A
NG_008690.2:g.111692T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.880T>A MANE Select	ENSP00000448059.1:p.Phe294Ile
ENST00000307000.7:c.865T>A	ENSP00000303500.2:p.Phe289Ile
ENST00000549247.6:n.639T>A
ENST00000551114.2:n.542T>A
ENST00000553106.5:c.880T>A	ENSP00000448059.1:p.Phe294Ile
ENST00000635477.1:c.41T>A
NM_000277.1:c.880T>A	NP_000268.1:p.Phe294Ile
XM_011538422.1:c.880T>A	XP_011536724.1:p.Phe294Ile
NM_000277.2:c.880T>A	NP_000268.1:p.Phe294Ile
NM_001354304.1:c.880T>A	NP_001341233.1:p.Phe294Ile
NM_000277.3:c.880T>A MANE Select	NP_000268.1:p.Phe294Ile
NM_001354304.2:c.880T>A	NP_001341233.1:p.Phe294Ile