Canonical Allele Identifier: CA386492928
Community Standard Title: NM_000277.3(PAH):c.1307C>G (p.Ser436Cys)
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840408G>C , CM000674.2:g.102840408G>C GRCh38
NC_000012.11:g.103234186G>C , CM000674.1:g.103234186G>C GRCh37
NC_000012.10:g.101758316G>C NCBI36
NG_008690.1:g.82195C>G
NG_008690.2:g.123003C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1307C>G MANE Select NP_000268.1:p.Ser436Cys
ENST00000553106.6:c.1307C>G MANE Select ENSP00000448059.1:p.Ser436Cys
NM_000277.1:c.1307C>G NP_000268.1:p.Ser436Cys
NM_000277.2:c.1307C>G NP_000268.1:p.Ser436Cys
NM_001354304.1:c.1307C>G NP_001341233.1:p.Ser436Cys
NM_001354304.2:c.1307C>G NP_001341233.1:p.Ser436Cys
ENST00000307000.7:c.1292C>G ENSP00000303500.2:p.Ser431Cys
ENST00000551114.2:n.969C>G
ENST00000553106.5:c.1307C>G ENSP00000448059.1:p.Ser436Cys
ENST00000635477.1:c.411C>G
ENST00000635528.1:n.822C>G
XM_011538422.1:c.1250C>G XP_011536724.1:p.Ser417Cys
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