Canonical Allele Identifier: CA2620525586
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854824-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854828dup , CM000674.2:g.102854828dup GRCh38
NC_000012.11:g.103248606dup , CM000674.1:g.103248606dup GRCh37
NC_000012.10:g.101772736dup NCBI36
NG_008690.1:g.67778dup
NG_008690.2:g.108586dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+311dup MANE Select ENSP00000448059.1:n.706+311dup
ENST00000307000.7:c.691+311dup ENSP00000303500.2:n.691+311dup
ENST00000549111.5:n.1113dup
ENST00000553106.5:c.706+311dup ENSP00000448059.1:n.706+311dup
NM_000277.1:c.706+311dup NP_000268.1:n.706+311dup
XM_011538422.1:c.706+311dup XP_011536724.1:n.706+311dup
NM_000277.2:c.706+311dup NP_000268.1:n.706+311dup
NM_001354304.1:c.706+311dup NP_001341233.1:n.706+311dup
XM_017019370.2:c.707-24dup XP_016874859.1:n.707-24dup
NM_000277.3:c.706+311dup MANE Select NP_000268.1:n.706+311dup
NM_001354304.2:c.706+311dup NP_001341233.1:n.706+311dup
Search 100 bp 5'
Search 100 bp 3'