Canonical Allele Identifier: CA286507

Gene: PAH

Linked Data

• ClinVar Variation Id: 102804
• ClinVar RCV Id: RCV000089055 ; RCV000576386
• dbSNP Id: rs62508730
• ExAC: 12:103246713 C / T
• gnomAD v2: 12-103246713-C-T
• gnomAD v3: 12-102852935-C-T
• gnomAD v4: 12-102852935-C-T
• MyVariant Identifiers: chr12:g.103246713C>T (hg19) ; chr12:g.102852935C>T (hg38)
• ERepo: CA286507/MONDO:0009861/006
• PubMed: PMID:8268925 ; PMID:8659548 ; PMID:9429153 ; PMID:9634518 ; PMID:10479481 ; PMID:10598814 ; PMID:12655553 ; PMID:12655554 ; PMID:15171997 ; PMID:17096675 ; PMID:17924342 ; PMID:17935162 ; PMID:18294361 ; PMID:18299955 ; PMID:19062537 ; PMID:21871829 ; PMID:22330942 ; PMID:23932990 ; PMID:24350308 ; PMID:25087612 ; PMID:25596310 ; PMID:26503515 ; PMID:26666653 ; PMID:27121329

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852935C>T , CM000674.2:g.102852935C>T	GRCh38
NC_000012.11:g.103246713C>T , CM000674.1:g.103246713C>T	GRCh37
NC_000012.10:g.101770843C>T	NCBI36
NG_008690.1:g.69668G>A
NG_008690.2:g.110476G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.722G>A MANE Select	ENSP00000448059.1:p.Arg241His
ENST00000307000.7:c.707G>A	ENSP00000303500.2:p.Arg236His
ENST00000549247.6:n.481G>A
ENST00000553106.5:c.722G>A	ENSP00000448059.1:p.Arg241His
NM_000277.1:c.722G>A	NP_000268.1:p.Arg241His
XM_011538422.1:c.722G>A	XP_011536724.1:p.Arg241His
NM_000277.2:c.722G>A	NP_000268.1:p.Arg241His
NM_001354304.1:c.722G>A	NP_001341233.1:p.Arg241His
NM_000277.3:c.722G>A MANE Select	NP_000268.1:p.Arg241His
NM_001354304.2:c.722G>A	NP_001341233.1:p.Arg241His