Canonical Allele Identifier: CA229743

Gene: PAH

Linked Data

• ClinVar Variation Id: 102824
• ClinVar RCV Id: RCV000089080 ; RCV000179742
• dbSNP Id: rs62644503
• gnomAD v2: 12-103246680-C-T
• gnomAD v3: 12-102852902-C-T
• gnomAD v4: 12-102852902-C-T
• MyVariant Identifiers: chr12:g.103246680C>T (hg19) ; chr12:g.102852902C>T (hg38)
• ERepo: CA229743/MONDO:0009861/006
• PubMed: PMID:7833954 ; PMID:9634518 ; PMID:24401910

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852902C>T , CM000674.2:g.102852902C>T	GRCh38
NC_000012.11:g.103246680C>T , CM000674.1:g.103246680C>T	GRCh37
NC_000012.10:g.101770810C>T	NCBI36
NG_008690.1:g.69701G>A
NG_008690.2:g.110509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.755G>A MANE Select	ENSP00000448059.1:p.Arg252Gln
ENST00000307000.7:c.740G>A	ENSP00000303500.2:p.Arg247Gln
ENST00000549247.6:n.514G>A
ENST00000553106.5:c.755G>A	ENSP00000448059.1:p.Arg252Gln
NM_000277.1:c.755G>A	NP_000268.1:p.Arg252Gln
XM_011538422.1:c.755G>A	XP_011536724.1:p.Arg252Gln
NM_000277.2:c.755G>A	NP_000268.1:p.Arg252Gln
NM_001354304.1:c.755G>A	NP_001341233.1:p.Arg252Gln
NM_000277.3:c.755G>A MANE Select	NP_000268.1:p.Arg252Gln
NM_001354304.2:c.755G>A	NP_001341233.1:p.Arg252Gln