Canonical Allele Identifier: CA229837

Gene: PAH

Linked Data

• ClinVar Variation Id: 102886
• ClinVar RCV Id: RCV000089147 ; RCV000993623
• dbSNP Id: rs62507267
• MyVariant Identifiers: chr12:g.103245480_103245482del (hg19) ; chr12:g.102851702_102851704del (hg38)
• ERepo: CA229837/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851702_102851704del , CM000674.2:g.102851702_102851704del	GRCh38
NC_000012.11:g.103245480_103245482del , CM000674.1:g.103245480_103245482del	GRCh37
NC_000012.10:g.101769610_101769612del	NCBI36
NG_008690.1:g.70899_70901del
NG_008690.2:g.111707_111709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.895_897del MANE Select	ENSP00000448059.1:p.Phe299del
ENST00000307000.7:c.880_882del	ENSP00000303500.2:p.Phe294del
ENST00000549247.6:n.654_656del
ENST00000551114.2:n.557_559del
ENST00000553106.5:c.895_897del	ENSP00000448059.1:p.Phe299del
ENST00000635477.1:c.56_58del
NM_000277.1:c.895_897del	NP_000268.1:p.Phe299del
XM_011538422.1:c.895_897del	XP_011536724.1:p.Phe299del
NM_000277.2:c.895_897del	NP_000268.1:p.Phe299del
NM_001354304.1:c.895_897del	NP_001341233.1:p.Phe299del
NM_000277.3:c.895_897del MANE Select	NP_000268.1:p.Phe299del
NM_001354304.2:c.895_897del	NP_001341233.1:p.Phe299del