Canonical Allele Identifier: CA2620515734
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102853025-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853027dup , CM000674.2:g.102853027dup GRCh38
NC_000012.11:g.103246805dup , CM000674.1:g.103246805dup GRCh37
NC_000012.10:g.101770935dup NCBI36
NG_008690.1:g.69577dup
NG_008690.2:g.110385dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-76dup MANE Select ENSP00000448059.1:n.707-76dup
ENST00000307000.7:c.692-76dup ENSP00000303500.2:n.692-76dup
ENST00000549247.6:n.390dup
ENST00000553106.5:c.707-76dup ENSP00000448059.1:n.707-76dup
NM_000277.1:c.707-76dup NP_000268.1:n.707-76dup
XM_011538422.1:c.707-76dup XP_011536724.1:n.707-76dup
NM_000277.2:c.707-76dup NP_000268.1:n.707-76dup
NM_001354304.1:c.707-76dup NP_001341233.1:n.707-76dup
NM_000277.3:c.707-76dup MANE Select NP_000268.1:n.707-76dup
NM_001354304.2:c.707-76dup NP_001341233.1:n.707-76dup
Search 100 bp 5'
Search 100 bp 3'