Canonical Allele Identifier: CA2059448820
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874748188
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844559del , CM000674.2:g.102844559del GRCh38
NC_000012.11:g.103238337del , CM000674.1:g.103238337del GRCh37
NC_000012.10:g.101762467del NCBI36
NG_008690.1:g.78046del
NG_008690.2:g.118854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-126del MANE Select ENSP00000448059.1:n.970-126del
ENST00000307000.7:c.955-126del ENSP00000303500.2:n.955-126del
ENST00000549247.6:n.729-126del
ENST00000551114.2:n.632-126del
ENST00000553106.5:c.970-126del ENSP00000448059.1:n.970-126del
ENST00000635477.1:c.74-126del
ENST00000635528.1:n.485-126del
NM_000277.1:c.970-126del NP_000268.1:n.970-126del
XM_011538422.1:c.913-126del XP_011536724.1:n.913-126del
NM_000277.2:c.970-126del NP_000268.1:n.970-126del
NM_001354304.1:c.970-126del NP_001341233.1:n.970-126del
NM_000277.3:c.970-126del MANE Select NP_000268.1:n.970-126del
NM_001354304.2:c.970-126del NP_001341233.1:n.970-126del
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