Canonical Allele Identifier: CA229717

Gene: PAH

Linked Data

• ClinVar Variation Id: 102806
• ClinVar RCV Id: RCV000089057 ; RCV000169560
• dbSNP Id: rs199475657
• MyVariant Identifiers: chr12:g.103246713del (hg19) ; chr12:g.102852935del (hg38)
• ERepo: CA229717/MONDO:0009861/006
• PubMed: PMID:12905706 ; PMID:16256386 ; PMID:25456745

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852935del , CM000674.2:g.102852935del	GRCh38
NC_000012.11:g.103246713del , CM000674.1:g.103246713del	GRCh37
NC_000012.10:g.101770843del	NCBI36
NG_008690.1:g.69668del
NG_008690.2:g.110476del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.722del MANE Select	ENSP00000448059.1:p.Arg241ProfsTer?
ENST00000307000.7:c.707del	ENSP00000303500.2:p.Arg236ProfsTer?
ENST00000549247.6:n.481del
ENST00000553106.5:c.722del	ENSP00000448059.1:p.Arg241ProfsTer?
NM_000277.1:c.722del	NP_000268.1:p.Arg241ProfsTer?
XM_011538422.1:c.722del	XP_011536724.1:p.Arg241ProfsTer?
NM_000277.2:c.722del	NP_000268.1:p.Arg241ProfsTer?
NM_001354304.1:c.722del	NP_001341233.1:p.Arg241ProfsTer?
NM_000277.3:c.722del MANE Select	NP_000268.1:p.Arg241ProfsTer?
NM_001354304.2:c.722del	NP_001341233.1:p.Arg241ProfsTer?