Canonical Allele Identifier: CA607156381
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1468610223
gnomAD v2: 12-103259956-GATTC-G
gnomAD v3: 12-102866178-GATTC-G
gnomAD v4: 12-102866178-GATTC-G
MyVariant Identifiers: chr12:g.103259957_103259960del (hg19) chr12:g.102866179_102866182del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866182_102866185del , CM000674.2:g.102866182_102866185del GRCh38
NC_000012.11:g.103259960_103259963del , CM000674.1:g.103259960_103259963del GRCh37
NC_000012.10:g.101784090_101784093del NCBI36
NG_008690.1:g.56421_56424del
NG_008690.2:g.97229_97232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+414_509+417del MANE Select ENSP00000448059.1:n.509+414_509+417del
ENST00000307000.7:c.494+414_494+417del ENSP00000303500.2:n.494+414_494+417del
ENST00000549111.5:n.605+414_605+417del
ENST00000551988.5:n.531-10850_531-10847del
ENST00000553106.5:c.509+414_509+417del ENSP00000448059.1:n.509+414_509+417del
NM_000277.1:c.509+414_509+417del NP_000268.1:n.509+414_509+417del
XM_011538422.1:c.509+414_509+417del XP_011536724.1:n.509+414_509+417del
NM_000277.2:c.509+414_509+417del NP_000268.1:n.509+414_509+417del
NM_001354304.1:c.509+414_509+417del NP_001341233.1:n.509+414_509+417del
XM_017019370.2:c.509+414_509+417del XP_016874859.1:n.509+414_509+417del
NM_000277.3:c.509+414_509+417del MANE Select NP_000268.1:n.509+414_509+417del
NM_001354304.2:c.509+414_509+417del NP_001341233.1:n.509+414_509+417del
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