Canonical Allele Identifier: CA229355

Gene: PAH

Linked Data

• ClinVar Variation Id: 102532
• ClinVar RCV Id: RCV000088765 ; RCV001857428
• dbSNP Id: rs62642921
• gnomAD v2: 12-103237495-AT-A
• gnomAD v4: 12-102843717-AT-A
• MyVariant Identifiers: chr12:g.103237496del (hg19) ; chr12:g.102843718del (hg38)
• ERepo: CA229355/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843721del , CM000674.2:g.102843721del	GRCh38
NC_000012.11:g.103237499del , CM000674.1:g.103237499del	GRCh37
NC_000012.10:g.101761629del	NCBI36
NG_008690.1:g.78885del
NG_008690.2:g.119693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1127del MANE Select	ENSP00000448059.1:p.Asn376IlefsTer24
ENST00000307000.7:c.1112del	ENSP00000303500.2:p.Asn371IlefsTer24
ENST00000549247.6:n.886del
ENST00000551114.2:n.789del
ENST00000553106.5:c.1127del	ENSP00000448059.1:p.Asn376IlefsTer24
ENST00000635477.1:c.231del
ENST00000635528.1:n.642del
NM_000277.1:c.1127del	NP_000268.1:p.Asn376IlefsTer24
XM_011538422.1:c.1070del	XP_011536724.1:p.Asn357IlefsTer24
NM_000277.2:c.1127del	NP_000268.1:p.Asn376IlefsTer24
NM_001354304.1:c.1127del	NP_001341233.1:p.Asn376IlefsTer24
NM_000277.3:c.1127del MANE Select	NP_000268.1:p.Asn376IlefsTer24
NM_001354304.2:c.1127del	NP_001341233.1:p.Asn376IlefsTer24