Canonical Allele Identifier: CA251543

Gene: PAH

Linked Data

• ClinVar Variation Id: 619
• ClinVar RCV Id: RCV000000650 ; RCV000088774
• dbSNP Id: rs62516101
• ExAC: 12:103237461 C / T
• gnomAD v2: 12-103237461-C-T
• gnomAD v3: 12-102843683-C-T
• gnomAD v4: 12-102843683-C-T
• MyVariant Identifiers: chr12:g.103237461C>T (hg19) ; chr12:g.102843683C>T (hg38)
• ERepo: CA251543/MONDO:0009861/006
• PubMed: PMID:1360590 ; PMID:7581408 ; PMID:7668259 ; PMID:8406445 ; PMID:10408782 ; PMID:11180595 ; PMID:11385716 ; PMID:11524738 ; PMID:12765842 ; PMID:15503242 ; PMID:15557004 ; PMID:16755493 ; PMID:21307867 ; PMID:21953985 ; PMID:23500595 ; PMID:23559577 ; PMID:24401910 ; PMID:25596310

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843683C>T , CM000674.2:g.102843683C>T	GRCh38
NC_000012.11:g.103237461C>T , CM000674.1:g.103237461C>T	GRCh37
NC_000012.10:g.101761591C>T	NCBI36
NG_008690.1:g.78920G>A
NG_008690.2:g.119728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1162G>A MANE Select	ENSP00000448059.1:p.Val388Met
ENST00000307000.7:c.1147G>A	ENSP00000303500.2:p.Val383Met
ENST00000549247.6:n.921G>A
ENST00000551114.2:n.824G>A
ENST00000553106.5:c.1162G>A	ENSP00000448059.1:p.Val388Met
ENST00000635477.1:c.266G>A
ENST00000635528.1:n.677G>A
NM_000277.1:c.1162G>A	NP_000268.1:p.Val388Met
XM_011538422.1:c.1105G>A	XP_011536724.1:p.Val369Met
NM_000277.2:c.1162G>A	NP_000268.1:p.Val388Met
NM_001354304.1:c.1162G>A	NP_001341233.1:p.Val388Met
NM_000277.3:c.1162G>A MANE Select	NP_000268.1:p.Val388Met
NM_001354304.2:c.1162G>A	NP_001341233.1:p.Val388Met