Canonical Allele Identifier: CA229736
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102818
ClinVar RCV Id: RCV000089073 RCV000169396
dbSNP Id: rs199475579
gnomAD v4: 12-102852917-C-A
MyVariant Identifiers: chr12:g.103246695C>A (hg19) chr12:g.102852917C>A (hg38)
PubMed: PMID:1639423 PMID:7844887 PMID:8682503 PMID:9575658 PMID:9949232 PMID:10693064 PMID:16256386 PMID:17924342 PMID:19147918 PMID:21307867 PMID:21811977 PMID:23932990 PMID:24661517
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852917C>A , CM000674.2:g.102852917C>A GRCh38
NC_000012.11:g.103246695C>A , CM000674.1:g.103246695C>A GRCh37
NC_000012.10:g.101770825C>A NCBI36
NG_008690.1:g.69686G>T
NG_008690.2:g.110494G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.740G>T MANE Select ENSP00000448059.1:p.Gly247Val
ENST00000307000.7:c.725G>T ENSP00000303500.2:p.Gly242Val
ENST00000549247.6:n.499G>T
ENST00000553106.5:c.740G>T ENSP00000448059.1:p.Gly247Val
NM_000277.1:c.740G>T NP_000268.1:p.Gly247Val
XM_011538422.1:c.740G>T XP_011536724.1:p.Gly247Val
NM_000277.2:c.740G>T NP_000268.1:p.Gly247Val
NM_001354304.1:c.740G>T NP_001341233.1:p.Gly247Val
NM_000277.3:c.740G>T MANE Select NP_000268.1:p.Gly247Val
NM_001354304.2:c.740G>T NP_001341233.1:p.Gly247Val
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