Canonical Allele Identifier: CA16041557
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370288
ClinVar RCV Id: RCV000410563
dbSNP Id: rs1057516377

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840420dup , CM000674.2:g.102840420dup GRCh38
NC_000012.11:g.103234198dup , CM000674.1:g.103234198dup GRCh37
NC_000012.10:g.101758328dup NCBI36
NG_008690.1:g.82186dup
NG_008690.2:g.122994dup

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1298dup VV NP_000268.1:p.Leu433PhefsTer3
XM_011538422.1:c.1241dup XP_011536724.1:p.Leu414PhefsTer3
NM_000277.2:c.1298dup VV
NM_001354304.1:c.1298dup VV NP_001341233.1:p.Leu433PhefsTer3
ENST00000307000.7:c.1283dup ENSP00000303500.2:p.Leu428PhefsTer3
ENST00000551114.2:n.960dup
ENST00000553106.5:c.1298dup ENSP00000448059.1:p.Leu433PhefsTer3
ENST00000635477.1:n.402dup
ENST00000635528.1:n.813dup