Canonical Allele Identifier: CA114367
Gene: PAH HGNC NCBI

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)
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
ERepo: CA114367/MONDO:0009861/006
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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
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