Canonical Allele Identifier: CA2059448546
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1268131611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854815_102854818dup , CM000674.2:g.102854815_102854818dup GRCh38
NC_000012.11:g.103248593_103248596dup , CM000674.1:g.103248593_103248596dup GRCh37
NC_000012.10:g.101772723_101772726dup NCBI36
NG_008690.1:g.67785_67788dup
NG_008690.2:g.108593_108596dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+318_706+321dup MANE Select ENSP00000448059.1:n.706+318_706+321dup
ENST00000307000.7:c.691+318_691+321dup ENSP00000303500.2:n.691+318_691+321dup
ENST00000549111.5:n.1120_1123dup
ENST00000553106.5:c.706+318_706+321dup ENSP00000448059.1:n.706+318_706+321dup
NM_000277.1:c.706+318_706+321dup NP_000268.1:n.706+318_706+321dup
XM_011538422.1:c.706+318_706+321dup XP_011536724.1:n.706+318_706+321dup
NM_000277.2:c.706+318_706+321dup NP_000268.1:n.706+318_706+321dup
NM_001354304.1:c.706+318_706+321dup NP_001341233.1:n.706+318_706+321dup
XM_017019370.2:c.707-17_707-14dup XP_016874859.1:n.707-17_707-14dup
NM_000277.3:c.706+318_706+321dup MANE Select NP_000268.1:n.706+318_706+321dup
NM_001354304.2:c.706+318_706+321dup NP_001341233.1:n.706+318_706+321dup
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