Canonical Allele Identifier: CA481330836
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240703T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846925T>C , CM000674.2:g.102846925T>C GRCh38
NC_000012.11:g.103240703T>C , CM000674.1:g.103240703T>C GRCh37
NC_000012.10:g.101764833T>C NCBI36
NG_008690.1:g.75678A>G
NG_008690.2:g.116486A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.939A>G MANE Select ENSP00000448059.1:p.Ala313=
ENST00000307000.7:c.924A>G ENSP00000303500.2:p.Ala308=
ENST00000549247.6:n.698A>G
ENST00000551114.2:n.601A>G
ENST00000553106.5:c.939A>G ENSP00000448059.1:p.Ala313=
ENST00000635477.1:c.74-2494A>G
ENST00000635528.1:n.454A>G
NM_000277.1:c.939A>G NP_000268.1:p.Ala313=
XM_011538422.1:c.913-2494A>G XP_011536724.1:n.913-2494A>G
NM_000277.2:c.939A>G NP_000268.1:p.Ala313=
NM_001354304.1:c.939A>G NP_001341233.1:p.Ala313=
NM_000277.3:c.939A>G MANE Select NP_000268.1:p.Ala313=
NM_001354304.2:c.939A>G NP_001341233.1:p.Ala313=
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