Canonical Allele Identifier: CA2059449640
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855278_102855279delinsGC , CM000674.2:g.102855278_102855279delinsGC GRCh38
NC_000012.11:g.103249056_103249057delinsGC , CM000674.1:g.103249056_103249057delinsGC GRCh37
NC_000012.10:g.101773186_101773187delinsGC NCBI36
NG_008690.1:g.67324_67325delinsGC
NG_008690.2:g.108132_108133delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.563_564delinsGC MANE Select ENSP00000448059.1:p.Gly188=
ENST00000307000.7:c.548_549delinsGC ENSP00000303500.2:p.Gly183=
ENST00000549111.5:n.659_660delinsGC
ENST00000553106.5:c.563_564delinsGC ENSP00000448059.1:p.Gly188=
NM_000277.1:c.563_564delinsGC NP_000268.1:p.Gly188=
XM_011538422.1:c.563_564delinsGC XP_011536724.1:p.Gly188=
NM_000277.2:c.563_564delinsGC NP_000268.1:p.Gly188=
NM_001354304.1:c.563_564delinsGC NP_001341233.1:p.Gly188=
XM_017019370.2:c.563_564delinsGC XP_016874859.1:p.Gly188=
NM_000277.3:c.563_564delinsGC MANE Select NP_000268.1:p.Gly188=
NM_001354304.2:c.563_564delinsGC NP_001341233.1:p.Gly188=
Search 100 bp 5'
Search 100 bp 3'