Canonical Allele Identifier: CA229391
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102562
ClinVar RCV Id: RCV000088796 RCV001543634
dbSNP Id: rs199475658
MyVariant Identifiers: chr12:g.103237424C>G (hg19) chr12:g.102843646C>G (hg38)
PubMed: PMID:16256386 PMID:26503515
ERepo: CA229391/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843646C>G , CM000674.2:g.102843646C>G GRCh38
NC_000012.11:g.103237424C>G , CM000674.1:g.103237424C>G GRCh37
NC_000012.10:g.101761554C>G NCBI36
NG_008690.1:g.78957G>C
NG_008690.2:g.119765G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199G>C MANE Select ENSP00000448059.1:p.Arg400Thr
ENST00000307000.7:c.1184G>C ENSP00000303500.2:p.Arg395Thr
ENST00000549247.6:n.958G>C
ENST00000551114.2:n.861G>C
ENST00000553106.5:c.1199G>C ENSP00000448059.1:p.Arg400Thr
ENST00000635477.1:c.303G>C
ENST00000635528.1:n.714G>C
NM_000277.1:c.1199G>C NP_000268.1:p.Arg400Thr
XM_011538422.1:c.1142G>C XP_011536724.1:p.Arg381Thr
NM_000277.2:c.1199G>C NP_000268.1:p.Arg400Thr
NM_001354304.1:c.1199G>C NP_001341233.1:p.Arg400Thr
NM_000277.3:c.1199G>C MANE Select NP_000268.1:p.Arg400Thr
NM_001354304.2:c.1199G>C NP_001341233.1:p.Arg400Thr
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