Canonical Allele Identifier: CA682813468
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1251832425
MyVariant Identifiers: chr12:g.103259521_103259522del (hg19) chr12:g.102865743_102865744del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865750_102865751del , CM000674.2:g.102865750_102865751del GRCh38
NC_000012.11:g.103259528_103259529del , CM000674.1:g.103259528_103259529del GRCh37
NC_000012.10:g.101783658_101783659del NCBI36
NG_008690.1:g.56859_56860del
NG_008690.2:g.97667_97668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+852_509+853del MANE Select ENSP00000448059.1:n.509+852_509+853del
ENST00000307000.7:c.494+852_494+853del ENSP00000303500.2:n.494+852_494+853del
ENST00000549111.5:n.605+852_605+853del
ENST00000551988.5:n.531-10412_531-10411del
ENST00000553106.5:c.509+852_509+853del ENSP00000448059.1:n.509+852_509+853del
NM_000277.1:c.509+852_509+853del NP_000268.1:n.509+852_509+853del
XM_011538422.1:c.509+852_509+853del XP_011536724.1:n.509+852_509+853del
NM_000277.2:c.509+852_509+853del NP_000268.1:n.509+852_509+853del
NM_001354304.1:c.509+852_509+853del NP_001341233.1:n.509+852_509+853del
XM_017019370.2:c.509+852_509+853del XP_016874859.1:n.509+852_509+853del
NM_000277.3:c.509+852_509+853del MANE Select NP_000268.1:n.509+852_509+853del
NM_001354304.2:c.509+852_509+853del NP_001341233.1:n.509+852_509+853del
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