Canonical Allele Identifier: CA951235985
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875337425
gnomAD v3: 12-102854873-G-GAA
gnomAD v4: 12-102854873-G-GAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854876_102854877dup , CM000674.2:g.102854876_102854877dup GRCh38
NC_000012.11:g.103248654_103248655dup , CM000674.1:g.103248654_103248655dup GRCh37
NC_000012.10:g.101772784_101772785dup NCBI36
NG_008690.1:g.67728_67729dup
NG_008690.2:g.108536_108537dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+261_706+262dup MANE Select ENSP00000448059.1:n.706+261_706+262dup
ENST00000307000.7:c.691+261_691+262dup ENSP00000303500.2:n.691+261_691+262dup
ENST00000549111.5:n.1063_1064dup
ENST00000553106.5:c.706+261_706+262dup ENSP00000448059.1:n.706+261_706+262dup
NM_000277.1:c.706+261_706+262dup NP_000268.1:n.706+261_706+262dup
XM_011538422.1:c.706+261_706+262dup XP_011536724.1:n.706+261_706+262dup
NM_000277.2:c.706+261_706+262dup NP_000268.1:n.706+261_706+262dup
NM_001354304.1:c.706+261_706+262dup NP_001341233.1:n.706+261_706+262dup
XM_017019370.2:c.707-74_707-73dup XP_016874859.1:n.707-74_707-73dup
NM_000277.3:c.706+261_706+262dup MANE Select NP_000268.1:n.706+261_706+262dup
NM_001354304.2:c.706+261_706+262dup NP_001341233.1:n.706+261_706+262dup
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