Canonical Allele Identifier: CA2059456740
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875945253
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866094_102866095insC , CM000674.2:g.102866094_102866095insC GRCh38
NC_000012.11:g.103259872_103259873insC , CM000674.1:g.103259872_103259873insC GRCh37
NC_000012.10:g.101784002_101784003insC NCBI36
NG_008690.1:g.56508_56509insG
NG_008690.2:g.97316_97317insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+501_509+502insG MANE Select ENSP00000448059.1:n.509+501_509+502insG
ENST00000307000.7:c.494+501_494+502insG ENSP00000303500.2:n.494+501_494+502insG
ENST00000549111.5:n.605+501_605+502insG
ENST00000551988.5:n.531-10763_531-10762insG
ENST00000553106.5:c.509+501_509+502insG ENSP00000448059.1:n.509+501_509+502insG
NM_000277.1:c.509+501_509+502insG NP_000268.1:n.509+501_509+502insG
XM_011538422.1:c.509+501_509+502insG XP_011536724.1:n.509+501_509+502insG
NM_000277.2:c.509+501_509+502insG NP_000268.1:n.509+501_509+502insG
NM_001354304.1:c.509+501_509+502insG NP_001341233.1:n.509+501_509+502insG
XM_017019370.2:c.509+501_509+502insG XP_016874859.1:n.509+501_509+502insG
NM_000277.3:c.509+501_509+502insG MANE Select NP_000268.1:n.509+501_509+502insG
NM_001354304.2:c.509+501_509+502insG NP_001341233.1:n.509+501_509+502insG
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