Canonical Allele Identifier: CA386291669
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103240704G>C (hg19) chr12:g.102846926G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846926G>C , CM000674.2:g.102846926G>C GRCh38
NC_000012.11:g.103240704G>C , CM000674.1:g.103240704G>C GRCh37
NC_000012.10:g.101764834G>C NCBI36
NG_008690.1:g.75677C>G
NG_008690.2:g.116485C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.938C>G MANE Select ENSP00000448059.1:p.Ala313Gly
ENST00000307000.7:c.923C>G ENSP00000303500.2:p.Ala308Gly
ENST00000549247.6:n.697C>G
ENST00000551114.2:n.600C>G
ENST00000553106.5:c.938C>G ENSP00000448059.1:p.Ala313Gly
ENST00000635477.1:c.74-2495C>G
ENST00000635528.1:n.453C>G
NM_000277.1:c.938C>G NP_000268.1:p.Ala313Gly
XM_011538422.1:c.913-2495C>G XP_011536724.1:n.913-2495C>G
NM_000277.2:c.938C>G NP_000268.1:p.Ala313Gly
NM_001354304.1:c.938C>G NP_001341233.1:p.Ala313Gly
NM_000277.3:c.938C>G MANE Select NP_000268.1:p.Ala313Gly
NM_001354304.2:c.938C>G NP_001341233.1:p.Ala313Gly
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