Canonical Allele Identifier: CA229450
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102603
ClinVar RCV Id: RCV000088844 RCV002509217
dbSNP Id: rs199475631
MyVariant Identifiers: chr12:g.103306572_103306574del (hg19) chr12:g.102912794_102912796del (hg38)
ERepo: CA229450/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912794_102912796del , CM000674.2:g.102912794_102912796del GRCh38
NC_000012.11:g.103306572_103306574del , CM000674.1:g.103306572_103306574del GRCh37
NC_000012.10:g.101830702_101830704del NCBI36
NG_008690.1:g.9807_9809del
NG_008690.2:g.50615_50617del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.163_165del MANE Select ENSP00000448059.1:p.Phe55del
ENST00000307000.7:c.148_150del ENSP00000303500.2:p.Phe50del
ENST00000546844.1:c.163_165del ENSP00000446658.1:p.Phe55del
ENST00000548677.2:n.250_252del
ENST00000548928.1:n.85_87del
ENST00000549111.5:n.259_261del
ENST00000550978.6:c.147_149del
ENST00000551337.5:c.163_165del ENSP00000447620.1:p.Phe55del
ENST00000551988.5:n.252_254del
ENST00000553106.5:c.163_165del ENSP00000448059.1:p.Phe55del
ENST00000635500.1:n.131_133del
NM_000277.1:c.163_165del NP_000268.1:p.Phe55del
XM_011538422.1:c.163_165del XP_011536724.1:p.Phe55del
NM_000277.2:c.163_165del NP_000268.1:p.Phe55del
NM_001354304.1:c.163_165del NP_001341233.1:p.Phe55del
XM_017019370.2:c.163_165del XP_016874859.1:p.Phe55del
NM_000277.3:c.163_165del MANE Select NP_000268.1:p.Phe55del
NM_001354304.2:c.163_165del NP_001341233.1:p.Phe55del
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