Canonical Allele Identifier: CA229743
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102824
ClinVar RCV Id: RCV000089080 RCV000179742
dbSNP Id: rs62644503
gnomAD v2: 12-103246680-C-T
gnomAD v3: 12-102852902-C-T
gnomAD v4: 12-102852902-C-T
MyVariant Identifiers: chr12:g.103246680C>T (hg19) chr12:g.102852902C>T (hg38)
PubMed: PMID:7833954 PMID:9634518 PMID:24401910
ERepo: CA229743/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852902C>T , CM000674.2:g.102852902C>T GRCh38
NC_000012.11:g.103246680C>T , CM000674.1:g.103246680C>T GRCh37
NC_000012.10:g.101770810C>T NCBI36
NG_008690.1:g.69701G>A
NG_008690.2:g.110509G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.755G>A MANE Select ENSP00000448059.1:p.Arg252Gln
ENST00000307000.7:c.740G>A ENSP00000303500.2:p.Arg247Gln
ENST00000549247.6:n.514G>A
ENST00000553106.5:c.755G>A ENSP00000448059.1:p.Arg252Gln
NM_000277.1:c.755G>A NP_000268.1:p.Arg252Gln
XM_011538422.1:c.755G>A XP_011536724.1:p.Arg252Gln
NM_000277.2:c.755G>A NP_000268.1:p.Arg252Gln
NM_001354304.1:c.755G>A NP_001341233.1:p.Arg252Gln
NM_000277.3:c.755G>A MANE Select NP_000268.1:p.Arg252Gln
NM_001354304.2:c.755G>A NP_001341233.1:p.Arg252Gln
Search 100 bp 5'
Search 100 bp 3'