Canonical Allele Identifier: CA267647
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 120271
ClinVar RCV Id: RCV000106352
dbSNP Id: rs281865431
MyVariant Identifiers: chr12:g.103288654_103288659dup (hg19) chr12:g.103288655_103288660dupAGAAGG (hg19) chr12:g.102894876_102894881dup (hg38) chr12:g.102894877_102894882dupAGAAGG (hg38)
ERepo: CA267647/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894877_102894882dup , CM000674.2:g.102894877_102894882dup GRCh38
NC_000012.11:g.103288655_103288660dup , CM000674.1:g.103288655_103288660dup GRCh37
NC_000012.10:g.101812785_101812790dup NCBI36
NG_008690.1:g.27722_27727dup
NG_008690.2:g.68530_68535dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.206_211dup MANE Select ENSP00000448059.1:p.Ser70_Arg71insProSer
ENST00000307000.7:c.191_196dup ENSP00000303500.2:p.Ser65_Arg66insProSer
ENST00000546844.1:c.206_211dup ENSP00000446658.1:p.Ser70_Arg71insProSer
ENST00000548677.2:n.293_298dup
ENST00000548928.1:n.128_133dup
ENST00000549111.5:n.302_307dup
ENST00000550978.6:c.190_195dup
ENST00000551337.5:c.206_211dup ENSP00000447620.1:p.Ser70_Arg71insProSer
ENST00000551988.5:n.295_300dup
ENST00000553106.5:c.206_211dup ENSP00000448059.1:p.Ser70_Arg71insProSer
ENST00000635500.1:n.174_179dup
NM_000277.1:c.206_211dup NP_000268.1:p.Ser70_Arg71insProSer
XM_011538422.1:c.206_211dup XP_011536724.1:p.Ser70_Arg71insProSer
NM_000277.2:c.206_211dup NP_000268.1:p.Ser70_Arg71insProSer
NM_001354304.1:c.206_211dup NP_001341233.1:p.Ser70_Arg71insProSer
XM_017019370.2:c.206_211dup XP_016874859.1:p.Ser70_Arg71insProSer
NM_000277.3:c.206_211dup MANE Select NP_000268.1:p.Ser70_Arg71insProSer
NM_001354304.2:c.206_211dup NP_001341233.1:p.Ser70_Arg71insProSer
Search 100 bp 5'
Search 100 bp 3'