Canonical Allele Identifier: CA251541

Gene: PAH

Linked Data

• ClinVar Variation Id: 613
• ClinVar RCV Id: RCV000000644 ; RCV000089148
• dbSNP Id: rs62642933
• ExAC: 12:103245481 A / C
• gnomAD v2: 12-103245481-A-C
• gnomAD v3: 12-102851703-A-C
• gnomAD v4: 12-102851703-A-C
• MyVariant Identifiers: chr12:g.103245481A>C (hg19) ; chr12:g.102851703A>C (hg38)
• PubMed: PMID:1301187 ; PMID:1312992 ; PMID:7913581 ; PMID:8304187 ; PMID:8533759 ; PMID:8632937 ; PMID:8831077 ; PMID:8889590 ; PMID:9391881 ; PMID:9634518 ; PMID:9642259 ; PMID:9781015 ; PMID:10980574 ; PMID:11385716 ; PMID:12655553 ; PMID:17924342 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851703A>C , CM000674.2:g.102851703A>C	GRCh38
NC_000012.11:g.103245481A>C , CM000674.1:g.103245481A>C	GRCh37
NC_000012.10:g.101769611A>C	NCBI36
NG_008690.1:g.70900T>G
NG_008690.2:g.111708T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.896T>G MANE Select	ENSP00000448059.1:p.Phe299Cys
ENST00000307000.7:c.881T>G	ENSP00000303500.2:p.Phe294Cys
ENST00000549247.6:n.655T>G
ENST00000551114.2:n.558T>G
ENST00000553106.5:c.896T>G	ENSP00000448059.1:p.Phe299Cys
ENST00000635477.1:c.57T>G
NM_000277.1:c.896T>G	NP_000268.1:p.Phe299Cys
XM_011538422.1:c.896T>G	XP_011536724.1:p.Phe299Cys
NM_000277.2:c.896T>G	NP_000268.1:p.Phe299Cys
NM_001354304.1:c.896T>G	NP_001341233.1:p.Phe299Cys
NM_000277.3:c.896T>G MANE Select	NP_000268.1:p.Phe299Cys
NM_001354304.2:c.896T>G	NP_001341233.1:p.Phe299Cys