Canonical Allele Identifier: CA919161288
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592949136
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846358_102846359insGGGGA , CM000674.2:g.102846358_102846359insGGGGA GRCh38
NC_000012.11:g.103240136_103240137insGGGGA , CM000674.1:g.103240136_103240137insGGGGA GRCh37
NC_000012.10:g.101764266_101764267insGGGGA NCBI36
NG_008690.1:g.76244_76245insTCCCC
NG_008690.2:g.117052_117053insTCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.969+536_969+537insTCCCC MANE Select ENSP00000448059.1:n.969+536_969+537insTCCCC
ENST00000307000.7:c.954+536_954+537insTCCCC ENSP00000303500.2:n.954+536_954+537insTCCCC
ENST00000549247.6:n.728+536_728+537insTCCCC
ENST00000551114.2:n.631+536_631+537insTCCCC
ENST00000553106.5:c.969+536_969+537insTCCCC ENSP00000448059.1:n.969+536_969+537insTCCCC
ENST00000635477.1:c.74-1928_74-1927insTCCCC
ENST00000635528.1:n.484+536_484+537insTCCCC
NM_000277.1:c.969+536_969+537insTCCCC NP_000268.1:n.969+536_969+537insTCCCC
XM_011538422.1:c.913-1928_913-1927insTCCCC XP_011536724.1:n.913-1928_913-1927insTCCCC
NM_000277.2:c.969+536_969+537insTCCCC NP_000268.1:n.969+536_969+537insTCCCC
NM_001354304.1:c.969+536_969+537insTCCCC NP_001341233.1:n.969+536_969+537insTCCCC
NM_000277.3:c.969+536_969+537insTCCCC MANE Select NP_000268.1:n.969+536_969+537insTCCCC
NM_001354304.2:c.969+536_969+537insTCCCC NP_001341233.1:n.969+536_969+537insTCCCC
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