Canonical Allele Identifier: CA286501
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102658
ClinVar RCV Id: RCV000088905 RCV000666513
dbSNP Id: rs199475681
MyVariant Identifiers: chr12:g.103271313C>A (hg19) chr12:g.102877535C>A (hg38)
ERepo: CA286501/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877535C>A , CM000674.2:g.102877535C>A GRCh38
NC_000012.11:g.103271313C>A , CM000674.1:g.103271313C>A GRCh37
NC_000012.10:g.101795443C>A NCBI36
NG_008690.1:g.45068G>T
NG_008690.2:g.85876G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.368G>T MANE Select ENSP00000448059.1:p.Arg123Ile
ENST00000307000.7:c.353G>T ENSP00000303500.2:p.Arg118Ile
ENST00000549111.5:n.464G>T
ENST00000550978.6:c.352G>T
ENST00000551337.5:c.368G>T ENSP00000447620.1:p.Arg123Ile
ENST00000551988.5:n.457G>T
ENST00000553106.5:c.368G>T ENSP00000448059.1:p.Arg123Ile
NM_000277.1:c.368G>T NP_000268.1:p.Arg123Ile
XM_011538422.1:c.368G>T XP_011536724.1:p.Arg123Ile
NM_000277.2:c.368G>T NP_000268.1:p.Arg123Ile
NM_001354304.1:c.368G>T NP_001341233.1:p.Arg123Ile
XM_017019370.2:c.368G>T XP_016874859.1:p.Arg123Ile
NM_000277.3:c.368G>T MANE Select NP_000268.1:p.Arg123Ile
NM_001354304.2:c.368G>T NP_001341233.1:p.Arg123Ile
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