Canonical Allele Identifier: CA386299458
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 446524
ClinVar RCV Id: RCV000515792
dbSNP Id: rs199475679
MyVariant Identifiers: chr12:g.103260377C>G (hg19) chr12:g.102866599C>G (hg38)
ERepo: CA386299458/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866599C>G , CM000674.2:g.102866599C>G GRCh38
NC_000012.11:g.103260377C>G , CM000674.1:g.103260377C>G GRCh37
NC_000012.10:g.101784507C>G NCBI36
NG_008690.1:g.56004G>C
NG_008690.2:g.96812G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.506G>C MANE Select ENSP00000448059.1:p.Arg169Pro
ENST00000307000.7:c.491G>C ENSP00000303500.2:p.Arg164Pro
ENST00000549111.5:n.602G>C
ENST00000551988.5:n.530+10863G>C
ENST00000553106.5:c.506G>C ENSP00000448059.1:p.Arg169Pro
NM_000277.1:c.506G>C NP_000268.1:p.Arg169Pro
XM_011538422.1:c.506G>C XP_011536724.1:p.Arg169Pro
NM_000277.2:c.506G>C NP_000268.1:p.Arg169Pro
NM_001354304.1:c.506G>C NP_001341233.1:p.Arg169Pro
XM_017019370.2:c.506G>C XP_016874859.1:p.Arg169Pro
NM_000277.3:c.506G>C MANE Select NP_000268.1:p.Arg169Pro
NM_001354304.2:c.506G>C NP_001341233.1:p.Arg169Pro
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