Canonical Allele Identifier: CA2620525626
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854829-C-CAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854837_102854838dup , CM000674.2:g.102854837_102854838dup GRCh38
NC_000012.11:g.103248615_103248616dup , CM000674.1:g.103248615_103248616dup GRCh37
NC_000012.10:g.101772745_101772746dup NCBI36
NG_008690.1:g.67772_67773dup
NG_008690.2:g.108580_108581dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+305_706+306dup MANE Select ENSP00000448059.1:n.706+305_706+306dup
ENST00000307000.7:c.691+305_691+306dup ENSP00000303500.2:n.691+305_691+306dup
ENST00000549111.5:n.1107_1108dup
ENST00000553106.5:c.706+305_706+306dup ENSP00000448059.1:n.706+305_706+306dup
NM_000277.1:c.706+305_706+306dup NP_000268.1:n.706+305_706+306dup
XM_011538422.1:c.706+305_706+306dup XP_011536724.1:n.706+305_706+306dup
NM_000277.2:c.706+305_706+306dup NP_000268.1:n.706+305_706+306dup
NM_001354304.1:c.706+305_706+306dup NP_001341233.1:n.706+305_706+306dup
XM_017019370.2:c.707-30_707-29dup XP_016874859.1:n.707-30_707-29dup
NM_000277.3:c.706+305_706+306dup MANE Select NP_000268.1:n.706+305_706+306dup
NM_001354304.2:c.706+305_706+306dup NP_001341233.1:n.706+305_706+306dup
Search 100 bp 5'
Search 100 bp 3'