Canonical Allele Identifier: CA481578545
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875361970
MyVariant Identifiers: chr12:g.103248993A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855215A>G , CM000674.2:g.102855215A>G GRCh38
NC_000012.11:g.103248993A>G , CM000674.1:g.103248993A>G GRCh37
NC_000012.10:g.101773123A>G NCBI36
NG_008690.1:g.67388T>C
NG_008690.2:g.108196T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.627T>C MANE Select ENSP00000448059.1:p.Ile209=
ENST00000307000.7:c.612T>C ENSP00000303500.2:p.Ile204=
ENST00000549111.5:n.723T>C
ENST00000553106.5:c.627T>C ENSP00000448059.1:p.Ile209=
NM_000277.1:c.627T>C NP_000268.1:p.Ile209=
XM_011538422.1:c.627T>C XP_011536724.1:p.Ile209=
NM_000277.2:c.627T>C NP_000268.1:p.Ile209=
NM_001354304.1:c.627T>C NP_001341233.1:p.Ile209=
XM_017019370.2:c.627T>C XP_016874859.1:p.Ile209=
NM_000277.3:c.627T>C MANE Select NP_000268.1:p.Ile209=
NM_001354304.2:c.627T>C NP_001341233.1:p.Ile209=
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