Canonical Allele Identifier: CA286506

Gene: PAH

Linked Data

• ClinVar Variation Id: 102784
• ClinVar RCV Id: RCV000089035 ; RCV000411829 ; RCV003398705
• dbSNP Id: rs62516152
• ExAC: 12:103248932 C / T
• gnomAD v2: 12-103248932-C-T
• gnomAD v3: 12-102855154-C-T
• gnomAD v4: 12-102855154-C-T
• MyVariant Identifiers: chr12:g.103248932C>T (hg19) ; chr12:g.102855154C>T (hg38)
• ERepo: CA286506/MONDO:0009861/006
• PubMed: PMID:8088845 ; PMID:8268925 ; PMID:8830172 ; PMID:9012412 ; PMID:10234516 ; PMID:10598814 ; PMID:10679941 ; PMID:10693064 ; PMID:11161839 ; PMID:11678552 ; PMID:12655553 ; PMID:16198137 ; PMID:17096675 ; PMID:17924342 ; PMID:17935162 ; PMID:18299955 ; PMID:21147011 ; PMID:21871829 ; PMID:23500595 ; PMID:23764561 ; PMID:23792259 ; PMID:24048906

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855154C>T , CM000674.2:g.102855154C>T	GRCh38
NC_000012.11:g.103248932C>T , CM000674.1:g.103248932C>T	GRCh37
NC_000012.10:g.101773062C>T	NCBI36
NG_008690.1:g.67449G>A
NG_008690.2:g.108257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.688G>A MANE Select	ENSP00000448059.1:p.Val230Ile
ENST00000307000.7:c.673G>A	ENSP00000303500.2:p.Val225Ile
ENST00000549111.5:n.784G>A
ENST00000553106.5:c.688G>A	ENSP00000448059.1:p.Val230Ile
NM_000277.1:c.688G>A	NP_000268.1:p.Val230Ile
XM_011538422.1:c.688G>A	XP_011536724.1:p.Val230Ile
NM_000277.2:c.688G>A	NP_000268.1:p.Val230Ile
NM_001354304.1:c.688G>A	NP_001341233.1:p.Val230Ile
XM_017019370.2:c.688G>A	XP_016874859.1:p.Val230Ile
NM_000277.3:c.688G>A MANE Select	NP_000268.1:p.Val230Ile
NM_001354304.2:c.688G>A	NP_001341233.1:p.Val230Ile