Canonical Allele Identifier: CA682813705
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1198111103
MyVariant Identifiers: chr12:g.103259869_103259870insAAAG (hg19) chr12:g.102866091_102866092insAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866094_102866095insGAAA , CM000674.2:g.102866094_102866095insGAAA GRCh38
NC_000012.11:g.103259872_103259873insGAAA , CM000674.1:g.103259872_103259873insGAAA GRCh37
NC_000012.10:g.101784002_101784003insGAAA NCBI36
NG_008690.1:g.56511_56512insCTTT
NG_008690.2:g.97319_97320insCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+504_509+505insCTTT MANE Select ENSP00000448059.1:n.509+504_509+505insCTTT
ENST00000307000.7:c.494+504_494+505insCTTT ENSP00000303500.2:n.494+504_494+505insCTTT
ENST00000549111.5:n.605+504_605+505insCTTT
ENST00000551988.5:n.531-10760_531-10759insCTTT
ENST00000553106.5:c.509+504_509+505insCTTT ENSP00000448059.1:n.509+504_509+505insCTTT
NM_000277.1:c.509+504_509+505insCTTT NP_000268.1:n.509+504_509+505insCTTT
XM_011538422.1:c.509+504_509+505insCTTT XP_011536724.1:n.509+504_509+505insCTTT
NM_000277.2:c.509+504_509+505insCTTT NP_000268.1:n.509+504_509+505insCTTT
NM_001354304.1:c.509+504_509+505insCTTT NP_001341233.1:n.509+504_509+505insCTTT
XM_017019370.2:c.509+504_509+505insCTTT XP_016874859.1:n.509+504_509+505insCTTT
NM_000277.3:c.509+504_509+505insCTTT MANE Select NP_000268.1:n.509+504_509+505insCTTT
NM_001354304.2:c.509+504_509+505insCTTT NP_001341233.1:n.509+504_509+505insCTTT
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