Canonical Allele Identifier: CA229876
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102913
dbSNP Id: rs199475618

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846895_102846897del , CM000674.2:g.102846895_102846897del GRCh38
NC_000012.11:g.103240673_103240675del , CM000674.1:g.103240673_103240675del GRCh37
NC_000012.10:g.101764803_101764805del NCBI36
NG_008690.1:g.75706_75708del
NG_008690.2:g.116514_116516del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.967_969del VV NP_000268.1:p.Thr323del
XM_011538422.1:c.913-2466_913-2464del XP_011536724.1:p.=
NM_000277.2:c.967_969del VV NP_000268.1:p.Thr323del
NM_001354304.1:c.967_969del VV NP_001341233.1:p.Thr323del
NM_000277.3:c.967_969del VV MANE Preferred NP_000268.1:p.Thr323del
ENST00000307000.7:c.952_954del ENSP00000303500.2:p.Thr318del
ENST00000549247.6:n.726_728del
ENST00000551114.2:n.629_631del
ENST00000553106.5:c.967_969del ENSP00000448059.1:p.Thr323del
ENST00000635477.1:n.74-2466_74-2464del
ENST00000635528.1:n.482_484del