Canonical Allele Identifier: CA229632
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs62508587

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855263_102855264del , CM000674.2:g.102855263_102855264del GRCh38
NC_000012.11:g.103249041_103249042del , CM000674.1:g.103249041_103249042del GRCh37
NC_000012.10:g.101773171_101773172del NCBI36
NG_008690.1:g.67341_67342del
NG_008690.2:g.108149_108150del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.580_581del MANE Select ENSP00000448059.1:p.Leu194GlufsTer5
ENST00000307000.7:c.565_566del ENSP00000303500.2:p.Leu189GlufsTer5
ENST00000549111.5:n.676_677del
ENST00000553106.5:c.580_581del ENSP00000448059.1:p.Leu194GlufsTer5
NM_000277.1:c.580_581del NP_000268.1:p.Leu194GlufsTer5
XM_011538422.1:c.580_581del XP_011536724.1:p.Leu194GlufsTer5
NM_000277.2:c.580_581del NP_000268.1:p.Leu194GlufsTer5
NM_001354304.1:c.580_581del NP_001341233.1:p.Leu194GlufsTer5
XM_017019370.2:c.580_581del XP_016874859.1:p.Leu194GlufsTer5
NM_000277.3:c.580_581del MANE Select NP_000268.1:p.Leu194GlufsTer5
NM_001354304.2:c.580_581del NP_001341233.1:p.Leu194GlufsTer5