Canonical Allele Identifier: CA481375688
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs376480977
MyVariant Identifiers: chr12:g.103237549T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843771T>C , CM000674.2:g.102843771T>C GRCh38
NC_000012.11:g.103237549T>C , CM000674.1:g.103237549T>C GRCh37
NC_000012.10:g.101761679T>C NCBI36
NG_008690.1:g.78832A>G
NG_008690.2:g.119640A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1074A>G MANE Select ENSP00000448059.1:p.Leu358=
ENST00000307000.7:c.1059A>G ENSP00000303500.2:p.Leu353=
ENST00000549247.6:n.833A>G
ENST00000551114.2:n.736A>G
ENST00000553106.5:c.1074A>G ENSP00000448059.1:p.Leu358=
ENST00000635477.1:c.178A>G
ENST00000635528.1:n.589A>G
NM_000277.1:c.1074A>G NP_000268.1:p.Leu358=
XM_011538422.1:c.1017A>G XP_011536724.1:p.Leu339=
NM_000277.2:c.1074A>G NP_000268.1:p.Leu358=
NM_001354304.1:c.1074A>G NP_001341233.1:p.Leu358=
NM_000277.3:c.1074A>G MANE Select NP_000268.1:p.Leu358=
NM_001354304.2:c.1074A>G NP_001341233.1:p.Leu358=
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