Canonical Allele Identifier: CA2499536432
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865758_102865759insAT , CM000674.2:g.102865758_102865759insAT GRCh38
NC_000012.11:g.103259536_103259537insAT , CM000674.1:g.103259536_103259537insAT GRCh37
NC_000012.10:g.101783666_101783667insAT NCBI36
NG_008690.1:g.56844_56845insAT
NG_008690.2:g.97652_97653insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+837_509+838insAT MANE Select ENSP00000448059.1:n.509+837_509+838insAT
ENST00000307000.7:c.494+837_494+838insAT ENSP00000303500.2:n.494+837_494+838insAT
ENST00000549111.5:n.605+837_605+838insAT
ENST00000551988.5:n.531-10427_531-10426insAT
ENST00000553106.5:c.509+837_509+838insAT ENSP00000448059.1:n.509+837_509+838insAT
NM_000277.1:c.509+837_509+838insAT NP_000268.1:n.509+837_509+838insAT
XM_011538422.1:c.509+837_509+838insAT XP_011536724.1:n.509+837_509+838insAT
NM_000277.2:c.509+837_509+838insAT NP_000268.1:n.509+837_509+838insAT
NM_001354304.1:c.509+837_509+838insAT NP_001341233.1:n.509+837_509+838insAT
XM_017019370.2:c.509+837_509+838insAT XP_016874859.1:n.509+837_509+838insAT
NM_000277.3:c.509+837_509+838insAT MANE Select NP_000268.1:n.509+837_509+838insAT
NM_001354304.2:c.509+837_509+838insAT NP_001341233.1:n.509+837_509+838insAT
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