Canonical Allele Identifier: CA682813706
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1316117170
gnomAD v3: 12-102866092-A-AAAAC
gnomAD v4: 12-102866092-A-AAAAC
MyVariant Identifiers: chr12:g.103259870_103259871insAAAC (hg19) chr12:g.102866092_102866093insAAAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866093_102866096dup , CM000674.2:g.102866093_102866096dup GRCh38
NC_000012.11:g.103259871_103259874dup , CM000674.1:g.103259871_103259874dup GRCh37
NC_000012.10:g.101784001_101784004dup NCBI36
NG_008690.1:g.56507_56510dup
NG_008690.2:g.97315_97318dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+500_509+503dup MANE Select ENSP00000448059.1:n.509+500_509+503dup
ENST00000307000.7:c.494+500_494+503dup ENSP00000303500.2:n.494+500_494+503dup
ENST00000549111.5:n.605+500_605+503dup
ENST00000551988.5:n.531-10764_531-10761dup
ENST00000553106.5:c.509+500_509+503dup ENSP00000448059.1:n.509+500_509+503dup
NM_000277.1:c.509+500_509+503dup NP_000268.1:n.509+500_509+503dup
XM_011538422.1:c.509+500_509+503dup XP_011536724.1:n.509+500_509+503dup
NM_000277.2:c.509+500_509+503dup NP_000268.1:n.509+500_509+503dup
NM_001354304.1:c.509+500_509+503dup NP_001341233.1:n.509+500_509+503dup
XM_017019370.2:c.509+500_509+503dup XP_016874859.1:n.509+500_509+503dup
NM_000277.3:c.509+500_509+503dup MANE Select NP_000268.1:n.509+500_509+503dup
NM_001354304.2:c.509+500_509+503dup NP_001341233.1:n.509+500_509+503dup
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