Canonical Allele Identifier: CA229817

Gene: PAH

Linked Data

• ClinVar Variation Id: 102874
• ClinVar RCV Id: RCV000089135 ; RCV000411380
• dbSNP Id: rs199475582
• ExAC: 12:103245533 C / T
• gnomAD v2: 12-103245533-C-T
• gnomAD v4: 12-102851755-C-T
• MyVariant Identifiers: chr12:g.103245533C>T (hg19) ; chr12:g.102851755C>T (hg38)
• PubMed: PMID:9012412 ; PMID:11161839 ; PMID:17924342 ; PMID:22112818 ; PMID:22526846 ; PMID:23430918 ; PMID:26206375

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851755C>T , CM000674.2:g.102851755C>T	GRCh38
NC_000012.11:g.103245533C>T , CM000674.1:g.103245533C>T	GRCh37
NC_000012.10:g.101769663C>T	NCBI36
NG_008690.1:g.70848G>A
NG_008690.2:g.111656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.844G>A MANE Select	ENSP00000448059.1:p.Asp282Asn
ENST00000307000.7:c.829G>A	ENSP00000303500.2:p.Asp277Asn
ENST00000549247.6:n.603G>A
ENST00000551114.2:n.506G>A
ENST00000553106.5:c.844G>A	ENSP00000448059.1:p.Asp282Asn
ENST00000635477.1:c.5G>A
NM_000277.1:c.844G>A	NP_000268.1:p.Asp282Asn
XM_011538422.1:c.844G>A	XP_011536724.1:p.Asp282Asn
NM_000277.2:c.844G>A	NP_000268.1:p.Asp282Asn
NM_001354304.1:c.844G>A	NP_001341233.1:p.Asp282Asn
NM_000277.3:c.844G>A MANE Select	NP_000268.1:p.Asp282Asn
NM_001354304.2:c.844G>A	NP_001341233.1:p.Asp282Asn