Canonical Allele Identifier: CA2059448138
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844362_102844363delinsGC , CM000674.2:g.102844362_102844363delinsGC GRCh38
NC_000012.11:g.103238140_103238141delinsGC , CM000674.1:g.103238140_103238141delinsGC GRCh37
NC_000012.10:g.101762270_101762271delinsGC NCBI36
NG_008690.1:g.78240_78241delinsGC
NG_008690.2:g.119048_119049delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1038_1039delinsGC MANE Select ENSP00000448059.1:p.Gly346=
ENST00000307000.7:c.1023_1024delinsGC ENSP00000303500.2:p.Gly341=
ENST00000549247.6:n.797_798delinsGC
ENST00000551114.2:n.700_701delinsGC
ENST00000553106.5:c.1038_1039delinsGC ENSP00000448059.1:p.Gly346=
ENST00000635477.1:c.142_143delinsGC
ENST00000635528.1:n.553_554delinsGC
NM_000277.1:c.1038_1039delinsGC NP_000268.1:p.Gly346=
XM_011538422.1:c.981_982delinsGC XP_011536724.1:p.Gly327=
NM_000277.2:c.1038_1039delinsGC NP_000268.1:p.Gly346=
NM_001354304.1:c.1038_1039delinsGC NP_001341233.1:p.Gly346=
NM_000277.3:c.1038_1039delinsGC MANE Select NP_000268.1:p.Gly346=
NM_001354304.2:c.1038_1039delinsGC NP_001341233.1:p.Gly346=
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