Canonical Allele Identifier: CA242743402
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1106137
ClinVar RCV Id: RCV001430769
dbSNP Id: rs199979357
MyVariant Identifiers: chr12:g.103234169A>G (hg19) chr12:g.102840391A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840391A>G , CM000674.2:g.102840391A>G GRCh38
NC_000012.11:g.103234169A>G , CM000674.1:g.103234169A>G GRCh37
NC_000012.10:g.101758299A>G NCBI36
NG_008690.1:g.82212T>C
NG_008690.2:g.123020T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+9T>C MANE Select ENSP00000448059.1:n.1315+9T>C
ENST00000307000.7:c.1300+9T>C ENSP00000303500.2:n.1300+9T>C
ENST00000551114.2:n.977+9T>C
ENST00000553106.5:c.1315+9T>C ENSP00000448059.1:n.1315+9T>C
ENST00000635477.1:c.419+9T>C
ENST00000635528.1:n.830+9T>C
NM_000277.1:c.1315+9T>C NP_000268.1:n.1315+9T>C
XM_011538422.1:c.1258+9T>C XP_011536724.1:n.1258+9T>C
NM_000277.2:c.1315+9T>C NP_000268.1:n.1315+9T>C
NM_001354304.1:c.1315+9T>C NP_001341233.1:n.1315+9T>C
NM_000277.3:c.1315+9T>C MANE Select NP_000268.1:n.1315+9T>C
NM_001354304.2:c.1315+9T>C NP_001341233.1:n.1315+9T>C
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