Canonical Allele Identifier: CA16020889
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 805825
ClinVar RCV Id: RCV000993642
dbSNP Id: rs1592952183
MyVariant Identifiers: chr12:g.103245475T>G (hg19) chr12:g.102851697T>G (hg38)
ERepo: CA16020889/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851697T>G , CM000674.2:g.102851697T>G GRCh38
NC_000012.11:g.103245475T>G , CM000674.1:g.103245475T>G GRCh37
NC_000012.10:g.101769605T>G NCBI36
NG_008690.1:g.70906A>C
NG_008690.2:g.111714A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.902A>C MANE Select ENSP00000448059.1:p.Gln301Pro
ENST00000307000.7:c.887A>C ENSP00000303500.2:p.Gln296Pro
ENST00000549247.6:n.661A>C
ENST00000551114.2:n.564A>C
ENST00000553106.5:c.902A>C ENSP00000448059.1:p.Gln301Pro
ENST00000635477.1:c.63A>C
NM_000277.1:c.902A>C NP_000268.1:p.Gln301Pro
XM_011538422.1:c.902A>C XP_011536724.1:p.Gln301Pro
NM_000277.2:c.902A>C NP_000268.1:p.Gln301Pro
NM_001354304.1:c.902A>C NP_001341233.1:p.Gln301Pro
NM_000277.3:c.902A>C MANE Select NP_000268.1:p.Gln301Pro
NM_001354304.2:c.902A>C NP_001341233.1:p.Gln301Pro
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