Canonical Allele Identifier: CA607156405
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1220228987
gnomAD v2: 12-103260178-TTTATCATGTG-T
MyVariant Identifiers: chr12:g.103260179_103260188del (hg19) chr12:g.102866401_102866410del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866405_102866414del , CM000674.2:g.102866405_102866414del GRCh38
NC_000012.11:g.103260183_103260192del , CM000674.1:g.103260183_103260192del GRCh37
NC_000012.10:g.101784313_101784322del NCBI36
NG_008690.1:g.56193_56202del
NG_008690.2:g.97001_97010del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+186_509+195del MANE Select ENSP00000448059.1:n.509+186_509+195del
ENST00000307000.7:c.494+186_494+195del ENSP00000303500.2:n.494+186_494+195del
ENST00000549111.5:n.605+186_605+195del
ENST00000551988.5:n.530+11052_530+11061del
ENST00000553106.5:c.509+186_509+195del ENSP00000448059.1:n.509+186_509+195del
NM_000277.1:c.509+186_509+195del NP_000268.1:n.509+186_509+195del
XM_011538422.1:c.509+186_509+195del XP_011536724.1:n.509+186_509+195del
NM_000277.2:c.509+186_509+195del NP_000268.1:n.509+186_509+195del
NM_001354304.1:c.509+186_509+195del NP_001341233.1:n.509+186_509+195del
XM_017019370.2:c.509+186_509+195del XP_016874859.1:n.509+186_509+195del
NM_000277.3:c.509+186_509+195del MANE Select NP_000268.1:n.509+186_509+195del
NM_001354304.2:c.509+186_509+195del NP_001341233.1:n.509+186_509+195del
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