Canonical Allele Identifier: CA386492931
Community Standard Title: NM_000277.3(PAH):c.1306T>C (p.Ser436Pro)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840409A>G , CM000674.2:g.102840409A>G GRCh38
NC_000012.11:g.103234187A>G , CM000674.1:g.103234187A>G GRCh37
NC_000012.10:g.101758317A>G NCBI36
NG_008690.1:g.82194T>C
NG_008690.2:g.123002T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1306T>C MANE Select NP_000268.1:p.Ser436Pro
ENST00000553106.6:c.1306T>C MANE Select ENSP00000448059.1:p.Ser436Pro
NM_000277.1:c.1306T>C NP_000268.1:p.Ser436Pro
NM_000277.2:c.1306T>C NP_000268.1:p.Ser436Pro
NM_001354304.1:c.1306T>C NP_001341233.1:p.Ser436Pro
NM_001354304.2:c.1306T>C NP_001341233.1:p.Ser436Pro
ENST00000307000.7:c.1291T>C ENSP00000303500.2:p.Ser431Pro
ENST00000551114.2:n.968T>C
ENST00000553106.5:c.1306T>C ENSP00000448059.1:p.Ser436Pro
ENST00000635477.1:c.410T>C
ENST00000635528.1:n.821T>C
XM_011538422.1:c.1249T>C XP_011536724.1:p.Ser417Pro
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