Canonical Allele Identifier: CA16020852
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1693230
ClinVar RCV Id: RCV002260489
dbSNP Id: rs2136646297
ERepo: CA16020852/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852906_102852907del , CM000674.2:g.102852906_102852907del GRCh38
NC_000012.11:g.103246684_103246685del , CM000674.1:g.103246684_103246685del GRCh37
NC_000012.10:g.101770814_101770815del NCBI36
NG_008690.1:g.69699_69700del
NG_008690.2:g.110507_110508del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.753_754del MANE Select ENSP00000448059.1:p.Arg252GlyfsTer?
ENST00000307000.7:c.738_739del ENSP00000303500.2:p.Arg247GlyfsTer?
ENST00000549247.6:n.512_513del
ENST00000553106.5:c.753_754del ENSP00000448059.1:p.Arg252GlyfsTer?
NM_000277.1:c.753_754del NP_000268.1:p.Arg252GlyfsTer?
XM_011538422.1:c.753_754del XP_011536724.1:p.Arg252GlyfsTer?
NM_000277.2:c.753_754del NP_000268.1:p.Arg252GlyfsTer?
NM_001354304.1:c.753_754del NP_001341233.1:p.Arg252GlyfsTer?
NM_000277.3:c.753_754del MANE Select NP_000268.1:p.Arg252GlyfsTer?
NM_001354304.2:c.753_754del NP_001341233.1:p.Arg252GlyfsTer?
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