Canonical Allele Identifier: CA386295444
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 585208
ClinVar RCV Id: RCV000709704
dbSNP Id: rs5030849
MyVariant Identifiers: chr12:g.103246653C>A (hg19) chr12:g.102852875C>A (hg38)
ERepo: CA386295444/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852875C>A , CM000674.2:g.102852875C>A GRCh38
NC_000012.11:g.103246653C>A , CM000674.1:g.103246653C>A GRCh37
NC_000012.10:g.101770783C>A NCBI36
NG_008690.1:g.69728G>T
NG_008690.2:g.110536G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.782G>T MANE Select ENSP00000448059.1:p.Arg261Leu
ENST00000307000.7:c.767G>T ENSP00000303500.2:p.Arg256Leu
ENST00000549247.6:n.541G>T
ENST00000553106.5:c.782G>T ENSP00000448059.1:p.Arg261Leu
NM_000277.1:c.782G>T NP_000268.1:p.Arg261Leu
XM_011538422.1:c.782G>T XP_011536724.1:p.Arg261Leu
NM_000277.2:c.782G>T NP_000268.1:p.Arg261Leu
NM_001354304.1:c.782G>T NP_001341233.1:p.Arg261Leu
NM_000277.3:c.782G>T MANE Select NP_000268.1:p.Arg261Leu
NM_001354304.2:c.782G>T NP_001341233.1:p.Arg261Leu
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