Canonical Allele Identifier: CA229343

Gene: PAH

Linked Data

• ClinVar Variation Id: 102524
• ClinVar RCV Id: RCV000088757 ; RCV000781680
• dbSNP Id: rs62506951
• ExAC: 12:103237523 AG / A
• gnomAD v2: 12-103237523-AG-A
• gnomAD v4: 12-102843745-AG-A
• MyVariant Identifiers: chr12:g.103237524del (hg19) ; chr12:g.102843746del (hg38)
• ERepo: CA229343/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843750del , CM000674.2:g.102843750del	GRCh38
NC_000012.11:g.103237528del , CM000674.1:g.103237528del	GRCh37
NC_000012.10:g.101761658del	NCBI36
NG_008690.1:g.78857del
NG_008690.2:g.119665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1099del MANE Select	ENSP00000448059.1:p.Leu367TrpfsTer?
ENST00000307000.7:c.1084del	ENSP00000303500.2:p.Leu362TrpfsTer?
ENST00000549247.6:n.858del
ENST00000551114.2:n.761del
ENST00000553106.5:c.1099del	ENSP00000448059.1:p.Leu367TrpfsTer?
ENST00000635477.1:c.203del
ENST00000635528.1:n.614del
NM_000277.1:c.1099del	NP_000268.1:p.Leu367TrpfsTer?
XM_011538422.1:c.1042del	XP_011536724.1:p.Leu348TrpfsTer?
NM_000277.2:c.1099del	NP_000268.1:p.Leu367TrpfsTer?
NM_001354304.1:c.1099del	NP_001341233.1:p.Leu367TrpfsTer?
NM_000277.3:c.1099del MANE Select	NP_000268.1:p.Leu367TrpfsTer?
NM_001354304.2:c.1099del	NP_001341233.1:p.Leu367TrpfsTer?