Canonical Allele Identifier: CA16041560
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370582
ClinVar RCV Id: RCV000409653
dbSNP Id: rs1057516604

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894733dup , CM000674.2:g.102894733dup GRCh38
NC_000012.11:g.103288511dup , CM000674.1:g.103288511dup GRCh37
NC_000012.10:g.101812641dup NCBI36
NG_008690.1:g.27870dup
NG_008690.2:g.68678dup

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.352+2dup VV NP_000268.1:p.=
XM_011538422.1:c.352+2dup XP_011536724.1:p.=
NM_000277.2:c.352+2dup VV
NM_001354304.1:c.352+2dup VV NP_001341233.1:p.=
XM_017019370.2:c.352+2dup XP_016874859.1:p.=
NM_000277.3:c.352+2dup VV MANE Preferred
ENST00000307000.7:c.337+2dup ENSP00000303500.2:p.=
ENST00000548928.1:n.274+2dup
ENST00000549111.5:n.448+2dup
ENST00000550978.6:n.336+2dup
ENST00000551337.5:c.352+2dup ENSP00000447620.1:p.=
ENST00000551988.5:n.441+2dup
ENST00000553106.5:c.352+2dup ENSP00000448059.1:p.=