Canonical Allele Identifier: CA645584084
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM4567148
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855254_102855255delinsAC , CM000674.2:g.102855254_102855255delinsAC GRCh38
NC_000012.11:g.103249032_103249033delinsAC , CM000674.1:g.103249032_103249033delinsAC GRCh37
NC_000012.10:g.101773162_101773163delinsAC NCBI36
NG_008690.1:g.67348_67349delinsGT
NG_008690.2:g.108156_108157delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.587_588delinsGT MANE Select ENSP00000448059.1:p.Ser196Cys
ENST00000307000.7:c.572_573delinsGT ENSP00000303500.2:p.Ser191Cys
ENST00000549111.5:n.683_684delinsGT
ENST00000553106.5:c.587_588delinsGT ENSP00000448059.1:p.Ser196Cys
NM_000277.1:c.587_588delinsGT NP_000268.1:p.Ser196Cys
XM_011538422.1:c.587_588delinsGT XP_011536724.1:p.Ser196Cys
NM_000277.2:c.587_588delinsGT NP_000268.1:p.Ser196Cys
NM_001354304.1:c.587_588delinsGT NP_001341233.1:p.Ser196Cys
XM_017019370.2:c.587_588delinsGT XP_016874859.1:p.Ser196Cys
NM_000277.3:c.587_588delinsGT MANE Select NP_000268.1:p.Ser196Cys
NM_001354304.2:c.587_588delinsGT NP_001341233.1:p.Ser196Cys
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