Canonical Allele Identifier: CA682816839
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1459055702
MyVariant Identifiers: chr12:g.103306819del (hg19) chr12:g.102913041del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102913043del , CM000674.2:g.102913043del GRCh38
NC_000012.11:g.103306821del , CM000674.1:g.103306821del GRCh37
NC_000012.10:g.101830951del NCBI36
NG_008690.1:g.9562del
NG_008690.2:g.50370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.61-143del MANE Select ENSP00000448059.1:n.61-143del
ENST00000307000.7:c.46-143del ENSP00000303500.2:n.46-143del
ENST00000546844.1:c.61-143del ENSP00000446658.1:n.61-143del
ENST00000548677.2:n.148-143del
ENST00000549111.5:n.157-143del
ENST00000550978.6:c.45-143del
ENST00000551337.5:c.61-143del ENSP00000447620.1:n.61-143del
ENST00000551988.5:n.150-143del
ENST00000553106.5:c.61-143del ENSP00000448059.1:n.61-143del
ENST00000635500.1:n.29-143del
NM_000277.1:c.61-143del NP_000268.1:n.61-143del
XM_011538422.1:c.61-143del XP_011536724.1:n.61-143del
NM_000277.2:c.61-143del NP_000268.1:n.61-143del
NM_001354304.1:c.61-143del NP_001341233.1:n.61-143del
XM_017019370.2:c.61-143del XP_016874859.1:n.61-143del
NM_000277.3:c.61-143del MANE Select NP_000268.1:n.61-143del
NM_001354304.2:c.61-143del NP_001341233.1:n.61-143del
Search 100 bp 5'
Search 100 bp 3'