Canonical Allele Identifier: CA229757

Gene: PAH

Linked Data

• ClinVar Variation Id: 610
• ClinVar RCV Id: RCV000000641 ; RCV000089090 ; RCV003984798
• dbSNP Id: rs5030850
• ExAC: 12:103246654 G / A
• gnomAD v2: 12-103246654-G-A
• gnomAD v3: 12-102852876-G-A
• gnomAD v4: 12-102852876-G-A
• COSMIC: COSM1298833
• MyVariant Identifiers: chr12:g.103246654G>A (hg19) ; chr12:g.102852876G>A (hg38)
• ERepo: CA229757/MONDO:0009861/006
• PubMed: PMID:1682234 ; PMID:1769645 ; PMID:10598814 ; PMID:10693064 ; PMID:11180595 ; PMID:11385716 ; PMID:12409276 ; PMID:12655553 ; PMID:12765842 ; PMID:15503242 ; PMID:16601866 ; PMID:16755493 ; PMID:16879198 ; PMID:17935162 ; PMID:19062537 ; PMID:19394257 ; PMID:20920871 ; PMID:23500595 ; PMID:24048906 ; PMID:24401910 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852876G>A , CM000674.2:g.102852876G>A	GRCh38
NC_000012.11:g.103246654G>A , CM000674.1:g.103246654G>A	GRCh37
NC_000012.10:g.101770784G>A	NCBI36
NG_008690.1:g.69727C>T
NG_008690.2:g.110535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.781C>T MANE Select	ENSP00000448059.1:p.Arg261Ter
ENST00000307000.7:c.766C>T	ENSP00000303500.2:p.Arg256Ter
ENST00000549247.6:n.540C>T
ENST00000553106.5:c.781C>T	ENSP00000448059.1:p.Arg261Ter
NM_000277.1:c.781C>T	NP_000268.1:p.Arg261Ter
XM_011538422.1:c.781C>T	XP_011536724.1:p.Arg261Ter
NM_000277.2:c.781C>T	NP_000268.1:p.Arg261Ter
NM_001354304.1:c.781C>T	NP_001341233.1:p.Arg261Ter
NM_000277.3:c.781C>T MANE Select	NP_000268.1:p.Arg261Ter
NM_001354304.2:c.781C>T	NP_001341233.1:p.Arg261Ter