Canonical Allele Identifier: CA229427

Gene: PAH

Linked Data

• ClinVar Variation Id: 102586
• ClinVar RCV Id: RCV000088825 ; RCV000169393
• dbSNP Id: rs199475659
• gnomAD v4: 12-102840414-G-T
• MyVariant Identifiers: chr12:g.103234192G>T (hg19) ; chr12:g.102840414G>T (hg38)
• ERepo: CA229427/MONDO:0009861/006
• PubMed: PMID:16256386 ; PMID:17924342 ; PMID:18247293 ; PMID:19099685 ; PMID:19147918 ; PMID:21811977 ; PMID:23932990 ; PMID:24401910

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840414G>T , CM000674.2:g.102840414G>T	GRCh38
NC_000012.11:g.103234192G>T , CM000674.1:g.103234192G>T	GRCh37
NC_000012.10:g.101758322G>T	NCBI36
NG_008690.1:g.82189C>A
NG_008690.2:g.122997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1301C>A MANE Select	ENSP00000448059.1:p.Ala434Asp
ENST00000307000.7:c.1286C>A	ENSP00000303500.2:p.Ala429Asp
ENST00000551114.2:n.963C>A
ENST00000553106.5:c.1301C>A	ENSP00000448059.1:p.Ala434Asp
ENST00000635477.1:c.405C>A
ENST00000635528.1:n.816C>A
NM_000277.1:c.1301C>A	NP_000268.1:p.Ala434Asp
XM_011538422.1:c.1244C>A	XP_011536724.1:p.Ala415Asp
NM_000277.2:c.1301C>A	NP_000268.1:p.Ala434Asp
NM_001354304.1:c.1301C>A	NP_001341233.1:p.Ala434Asp
NM_000277.3:c.1301C>A MANE Select	NP_000268.1:p.Ala434Asp
NM_001354304.2:c.1301C>A	NP_001341233.1:p.Ala434Asp