Canonical Allele Identifier: CA251528

Gene: PAH

Linked Data

• ClinVar Variation Id: 582
• ClinVar RCV Id: RCV000000612 ; RCV000078530 ; RCV003904790
• dbSNP Id: rs5030849
• ExAC: 12:103246653 C / T
• gnomAD v2: 12-103246653-C-T
• gnomAD v3: 12-102852875-C-T
• gnomAD v4: 12-102852875-C-T
• COSMIC: COSM1358231
• MyVariant Identifiers: chr12:g.103246653C>T (hg19) ; chr12:g.102852875C>T (hg38)
• PubMed: PMID:1915502 ; PMID:1971144 ; PMID:2574153 ; PMID:8487271 ; PMID:17630668 ; PMID:20301677 ; PMID:21871829 ; PMID:26666653
• ERepo: CA251528/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852875C>T , CM000674.2:g.102852875C>T	GRCh38
NC_000012.11:g.103246653C>T , CM000674.1:g.103246653C>T	GRCh37
NC_000012.10:g.101770783C>T	NCBI36
NG_008690.1:g.69728G>A
NG_008690.2:g.110536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.782G>A MANE Select	ENSP00000448059.1:p.Arg261Gln
ENST00000307000.7:c.767G>A	ENSP00000303500.2:p.Arg256Gln
ENST00000549247.6:n.541G>A
ENST00000553106.5:c.782G>A	ENSP00000448059.1:p.Arg261Gln
NM_000277.1:c.782G>A	NP_000268.1:p.Arg261Gln
XM_011538422.1:c.782G>A	XP_011536724.1:p.Arg261Gln
NM_000277.2:c.782G>A	NP_000268.1:p.Arg261Gln
NM_001354304.1:c.782G>A	NP_001341233.1:p.Arg261Gln
NM_000277.3:c.782G>A MANE Select	NP_000268.1:p.Arg261Gln
NM_001354304.2:c.782G>A	NP_001341233.1:p.Arg261Gln