Canonical Allele Identifier: CA386295393

Gene: PAH

Linked Data

• ClinVar Variation Id: 1066686
• ClinVar RCV Id: RCV001377752
• dbSNP Id: rs62642944
• MyVariant Identifiers: chr12:g.103246646G>T (hg19) ; chr12:g.102852868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852868G>T , CM000674.2:g.102852868G>T	GRCh38
NC_000012.11:g.103246646G>T , CM000674.1:g.103246646G>T	GRCh37
NC_000012.10:g.101770776G>T	NCBI36
NG_008690.1:g.69735C>A
NG_008690.2:g.110543C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.789C>A MANE Select	ENSP00000448059.1:p.Phe263Leu
ENST00000307000.7:c.774C>A	ENSP00000303500.2:p.Phe258Leu
ENST00000549247.6:n.548C>A
ENST00000553106.5:c.789C>A	ENSP00000448059.1:p.Phe263Leu
NM_000277.1:c.789C>A	NP_000268.1:p.Phe263Leu
XM_011538422.1:c.789C>A	XP_011536724.1:p.Phe263Leu
NM_000277.2:c.789C>A	NP_000268.1:p.Phe263Leu
NM_001354304.1:c.789C>A	NP_001341233.1:p.Phe263Leu
NM_000277.3:c.789C>A MANE Select	NP_000268.1:p.Phe263Leu
NM_001354304.2:c.789C>A	NP_001341233.1:p.Phe263Leu