Canonical Allele Identifier: CA2059447921
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875301419
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854139dup , CM000674.2:g.102854139dup GRCh38
NC_000012.11:g.103247917dup , CM000674.1:g.103247917dup GRCh37
NC_000012.10:g.101772047dup NCBI36
NG_008690.1:g.68465dup
NG_008690.2:g.109273dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+998dup MANE Select ENSP00000448059.1:n.706+998dup
ENST00000307000.7:c.691+998dup ENSP00000303500.2:n.691+998dup
ENST00000553106.5:c.706+998dup ENSP00000448059.1:n.706+998dup
NM_000277.1:c.706+998dup NP_000268.1:n.706+998dup
XM_011538422.1:c.706+998dup XP_011536724.1:n.706+998dup
NM_000277.2:c.706+998dup NP_000268.1:n.706+998dup
NM_001354304.1:c.706+998dup NP_001341233.1:n.706+998dup
XM_017019370.2:c.*647dup XP_016874859.1:n.*647dup
NM_000277.3:c.706+998dup MANE Select NP_000268.1:n.706+998dup
NM_001354304.2:c.706+998dup NP_001341233.1:n.706+998dup
Search 100 bp 5'
Search 100 bp 3'