Canonical Allele Identifier: CA386291701
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240711G>C (hg19) chr12:g.102846933G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846933G>C , CM000674.2:g.102846933G>C GRCh38
NC_000012.11:g.103240711G>C , CM000674.1:g.103240711G>C GRCh37
NC_000012.10:g.101764841G>C NCBI36
NG_008690.1:g.75670C>G
NG_008690.2:g.116478C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.931C>G MANE Select ENSP00000448059.1:p.Leu311Val
ENST00000307000.7:c.916C>G ENSP00000303500.2:p.Leu306Val
ENST00000549247.6:n.690C>G
ENST00000551114.2:n.593C>G
ENST00000553106.5:c.931C>G ENSP00000448059.1:p.Leu311Val
ENST00000635477.1:c.74-2502C>G
ENST00000635528.1:n.446C>G
NM_000277.1:c.931C>G NP_000268.1:p.Leu311Val
XM_011538422.1:c.913-2502C>G XP_011536724.1:n.913-2502C>G
NM_000277.2:c.931C>G NP_000268.1:p.Leu311Val
NM_001354304.1:c.931C>G NP_001341233.1:p.Leu311Val
NM_000277.3:c.931C>G MANE Select NP_000268.1:p.Leu311Val
NM_001354304.2:c.931C>G NP_001341233.1:p.Leu311Val
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