Canonical Allele Identifier: CA2499221403
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1075141
ClinVar RCV Id: RCV001388660
dbSNP Id: rs2136649605
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855264_102855270del , CM000674.2:g.102855264_102855270del GRCh38
NC_000012.11:g.103249042_103249048del , CM000674.1:g.103249042_103249048del GRCh37
NC_000012.10:g.101773172_101773178del NCBI36
NG_008690.1:g.67335_67341del
NG_008690.2:g.108143_108149del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.574_580del MANE Select ENSP00000448059.1:p.Lys192Ter
ENST00000307000.7:c.559_565del ENSP00000303500.2:p.Lys187Ter
ENST00000549111.5:n.670_676del
ENST00000553106.5:c.574_580del ENSP00000448059.1:p.Lys192Ter
NM_000277.1:c.574_580del NP_000268.1:p.Lys192Ter
XM_011538422.1:c.574_580del XP_011536724.1:p.Lys192Ter
NM_000277.2:c.574_580del NP_000268.1:p.Lys192Ter
NM_001354304.1:c.574_580del NP_001341233.1:p.Lys192Ter
XM_017019370.2:c.574_580del XP_016874859.1:p.Lys192Ter
NM_000277.3:c.574_580del MANE Select NP_000268.1:p.Lys192Ter
NM_001354304.2:c.574_580del NP_001341233.1:p.Lys192Ter
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