Canonical Allele Identifier: CA114367

Gene: PAH

Linked Data

• ClinVar Variation Id: 625
• ClinVar RCV Id: RCV000000656 ; RCV000000657 ; RCV000078503 ; RCV003914792 ; RCV003993726
• dbSNP Id: rs5030856
• ExAC: 12:103237454 T / C
• gnomAD v2: 12-103237454-T-C
• gnomAD v3: 12-102843676-T-C
• gnomAD v4: 12-102843676-T-C
• MyVariant Identifiers: chr12:g.103237454T>C (hg19) ; chr12:g.102843676T>C (hg38)
• ERepo: CA114367/MONDO:0009861/006
• PubMed: PMID:8088845 ; PMID:8098245 ; PMID:8268925 ; PMID:8889590 ; PMID:10472529 ; PMID:10479481 ; PMID:11180595 ; PMID:12409276 ; PMID:12501224 ; PMID:15557004 ; PMID:17935162 ; PMID:19292873 ; PMID:19394257 ; PMID:21147011 ; PMID:22513348 ; PMID:22763404 ; PMID:23500595 ; PMID:23792259 ; PMID:24048906 ; PMID:25596310 ; PMID:26666653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843676T>C , CM000674.2:g.102843676T>C	GRCh38
NC_000012.11:g.103237454T>C , CM000674.1:g.103237454T>C	GRCh37
NC_000012.10:g.101761584T>C	NCBI36
NG_008690.1:g.78927A>G
NG_008690.2:g.119735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1169A>G MANE Select	ENSP00000448059.1:p.Glu390Gly
ENST00000307000.7:c.1154A>G	ENSP00000303500.2:p.Glu385Gly
ENST00000549247.6:n.928A>G
ENST00000551114.2:n.831A>G
ENST00000553106.5:c.1169A>G	ENSP00000448059.1:p.Glu390Gly
ENST00000635477.1:c.273A>G
ENST00000635528.1:n.684A>G
NM_000277.1:c.1169A>G	NP_000268.1:p.Glu390Gly
XM_011538422.1:c.1112A>G	XP_011536724.1:p.Glu371Gly
NM_000277.2:c.1169A>G	NP_000268.1:p.Glu390Gly
NM_001354304.1:c.1169A>G	NP_001341233.1:p.Glu390Gly
NM_000277.3:c.1169A>G MANE Select	NP_000268.1:p.Glu390Gly
NM_001354304.2:c.1169A>G	NP_001341233.1:p.Glu390Gly