Canonical Allele Identifier: CA682823072
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1195650250
MyVariant Identifiers: chr12:g.103238032del (hg19) chr12:g.102844254del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844256del , CM000674.2:g.102844256del GRCh38
NC_000012.11:g.103238034del , CM000674.1:g.103238034del GRCh37
NC_000012.10:g.101762164del NCBI36
NG_008690.1:g.78349del
NG_008690.2:g.119157del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1065+82del MANE Select ENSP00000448059.1:n.1065+82del
ENST00000307000.7:c.1050+82del ENSP00000303500.2:n.1050+82del
ENST00000549247.6:n.824+82del
ENST00000551114.2:n.727+82del
ENST00000553106.5:c.1065+82del ENSP00000448059.1:n.1065+82del
ENST00000635477.1:c.169+82del
ENST00000635528.1:n.580+82del
NM_000277.1:c.1065+82del NP_000268.1:n.1065+82del
XM_011538422.1:c.1008+82del XP_011536724.1:n.1008+82del
NM_000277.2:c.1065+82del NP_000268.1:n.1065+82del
NM_001354304.1:c.1065+82del NP_001341233.1:n.1065+82del
NM_000277.3:c.1065+82del MANE Select NP_000268.1:n.1065+82del
NM_001354304.2:c.1065+82del NP_001341233.1:n.1065+82del
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