Canonical Allele Identifier: CA229861
Community Standard Title: NM_000277.3(PAH):c.938C>T (p.Ala313Val)
Gene: PAH HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.938C>T MANE Select NP_000268.1:p.Ala313Val
ENST00000553106.6:c.938C>T MANE Select ENSP00000448059.1:p.Ala313Val
NM_000277.1:c.938C>T NP_000268.1:p.Ala313Val
NM_000277.2:c.938C>T NP_000268.1:p.Ala313Val
NM_001354304.1:c.938C>T NP_001341233.1:p.Ala313Val
NM_001354304.2:c.938C>T NP_001341233.1:p.Ala313Val
ENST00000307000.7:c.923C>T ENSP00000303500.2:p.Ala308Val
ENST00000549247.6:n.697C>T
ENST00000551114.2:n.600C>T
ENST00000553106.5:c.938C>T ENSP00000448059.1:p.Ala313Val
ENST00000635477.1:c.74-2495C>T
ENST00000635528.1:n.453C>T
XM_011538422.1:c.913-2495C>T XP_011536724.1:n.913-2495C>T
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