Canonical Allele Identifier: CA286506
Gene: PAH HGNC NCBI

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
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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
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