Canonical Allele Identifier: CA229695

Gene: PAH

Linked Data

• ClinVar Variation Id: 102787
• ClinVar RCV Id: RCV000089038 ; RCV001857431
• dbSNP Id: rs62508577
• MyVariant Identifiers: chr12:g.103248928G>A (hg19) ; chr12:g.102855150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855150G>A , CM000674.2:g.102855150G>A	GRCh38
NC_000012.11:g.103248928G>A , CM000674.1:g.103248928G>A	GRCh37
NC_000012.10:g.101773058G>A	NCBI36
NG_008690.1:g.67453C>T
NG_008690.2:g.108261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.692C>T MANE Select	ENSP00000448059.1:p.Ser231Phe
ENST00000307000.7:c.677C>T	ENSP00000303500.2:p.Ser226Phe
ENST00000549111.5:n.788C>T
ENST00000553106.5:c.692C>T	ENSP00000448059.1:p.Ser231Phe
NM_000277.1:c.692C>T	NP_000268.1:p.Ser231Phe
XM_011538422.1:c.692C>T	XP_011536724.1:p.Ser231Phe
NM_000277.2:c.692C>T	NP_000268.1:p.Ser231Phe
NM_001354304.1:c.692C>T	NP_001341233.1:p.Ser231Phe
XM_017019370.2:c.692C>T	XP_016874859.1:p.Ser231Phe
NM_000277.3:c.692C>T MANE Select	NP_000268.1:p.Ser231Phe
NM_001354304.2:c.692C>T	NP_001341233.1:p.Ser231Phe