Canonical Allele Identifier: CA607156430
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1485505456

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866567_102866568del , CM000674.2:g.102866567_102866568del GRCh38
NC_000012.11:g.103260345_103260346del , CM000674.1:g.103260345_103260346del GRCh37
NC_000012.10:g.101784475_101784476del NCBI36
NG_008690.1:g.56040_56041del
NG_008690.2:g.96848_96849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+33_509+34del MANE Select ENSP00000448059.1:n.509+33_509+34del
ENST00000307000.7:c.494+33_494+34del ENSP00000303500.2:n.494+33_494+34del
ENST00000549111.5:n.605+33_605+34del
ENST00000551988.5:n.530+10899_530+10900del
ENST00000553106.5:c.509+33_509+34del ENSP00000448059.1:n.509+33_509+34del
NM_000277.1:c.509+33_509+34del NP_000268.1:n.509+33_509+34del
XM_011538422.1:c.509+33_509+34del XP_011536724.1:n.509+33_509+34del
NM_000277.2:c.509+33_509+34del NP_000268.1:n.509+33_509+34del
NM_001354304.1:c.509+33_509+34del NP_001341233.1:n.509+33_509+34del
XM_017019370.2:c.509+33_509+34del XP_016874859.1:n.509+33_509+34del
NM_000277.3:c.509+33_509+34del MANE Select NP_000268.1:n.509+33_509+34del
NM_001354304.2:c.509+33_509+34del NP_001341233.1:n.509+33_509+34del