Canonical Allele Identifier: CA2620517270
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102854588-A-AT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854590dup , CM000674.2:g.102854590dup GRCh38
NC_000012.11:g.103248368dup , CM000674.1:g.103248368dup GRCh37
NC_000012.10:g.101772498dup NCBI36
NG_008690.1:g.68014dup
NG_008690.2:g.108822dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+547dup MANE Select ENSP00000448059.1:n.706+547dup
ENST00000307000.7:c.691+547dup ENSP00000303500.2:n.691+547dup
ENST00000553106.5:c.706+547dup ENSP00000448059.1:n.706+547dup
NM_000277.1:c.706+547dup NP_000268.1:n.706+547dup
XM_011538422.1:c.706+547dup XP_011536724.1:n.706+547dup
NM_000277.2:c.706+547dup NP_000268.1:n.706+547dup
NM_001354304.1:c.706+547dup NP_001341233.1:n.706+547dup
XM_017019370.2:c.*196dup XP_016874859.1:n.*196dup
NM_000277.3:c.706+547dup MANE Select NP_000268.1:n.706+547dup
NM_001354304.2:c.706+547dup NP_001341233.1:n.706+547dup
Search 100 bp 5'
Search 100 bp 3'