Canonical Allele Identifier: CA16020821
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987923
ClinVar RCV Id: RCV001269337
dbSNP Id: rs1875368328
ERepo: CA16020821/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855259dup , CM000674.2:g.102855259dup GRCh38
NC_000012.11:g.103249037dup , CM000674.1:g.103249037dup GRCh37
NC_000012.10:g.101773167dup NCBI36
NG_008690.1:g.67345dup
NG_008690.2:g.108153dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.584dup MANE Select ENSP00000448059.1:p.Ser196ValfsTer4
ENST00000307000.7:c.569dup ENSP00000303500.2:p.Ser191ValfsTer4
ENST00000549111.5:n.680dup
ENST00000553106.5:c.584dup ENSP00000448059.1:p.Ser196ValfsTer4
NM_000277.1:c.584dup NP_000268.1:p.Ser196ValfsTer4
XM_011538422.1:c.584dup XP_011536724.1:p.Ser196ValfsTer4
NM_000277.2:c.584dup NP_000268.1:p.Ser196ValfsTer4
NM_001354304.1:c.584dup NP_001341233.1:p.Ser196ValfsTer4
XM_017019370.2:c.584dup XP_016874859.1:p.Ser196ValfsTer4
NM_000277.3:c.584dup MANE Select NP_000268.1:p.Ser196ValfsTer4
NM_001354304.2:c.584dup NP_001341233.1:p.Ser196ValfsTer4
Search 100 bp 5'
Search 100 bp 3'