Canonical Allele Identifier: CA229634
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102743
ClinVar RCV Id: RCV000088992 RCV001269063
dbSNP Id: rs62895363
MyVariant Identifiers: chr12:g.103249012_103249034del (hg19) chr12:g.102855234_102855256del (hg38)
ERepo: CA229634/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855235_102855257del , CM000674.2:g.102855235_102855257del GRCh38
NC_000012.11:g.103249013_103249035del , CM000674.1:g.103249013_103249035del GRCh37
NC_000012.10:g.101773143_101773165del NCBI36
NG_008690.1:g.67347_67369del
NG_008690.2:g.108155_108177del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.586_608del MANE Select ENSP00000448059.1:p.Ser196LeufsTer2
ENST00000307000.7:c.571_593del ENSP00000303500.2:p.Ser191LeufsTer2
ENST00000549111.5:n.682_704del
ENST00000553106.5:c.586_608del ENSP00000448059.1:p.Ser196LeufsTer2
NM_000277.1:c.586_608del NP_000268.1:p.Ser196LeufsTer2
XM_011538422.1:c.586_608del XP_011536724.1:p.Ser196LeufsTer2
NM_000277.2:c.586_608del NP_000268.1:p.Ser196LeufsTer2
NM_001354304.1:c.586_608del NP_001341233.1:p.Ser196LeufsTer2
XM_017019370.2:c.586_608del XP_016874859.1:p.Ser196LeufsTer2
NM_000277.3:c.586_608del MANE Select NP_000268.1:p.Ser196LeufsTer2
NM_001354304.2:c.586_608del NP_001341233.1:p.Ser196LeufsTer2
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