Canonical Allele Identifier: CA682823656
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1440372067
gnomAD v3: 12-102844662-GA-G
gnomAD v4: 12-102844662-GA-G
MyVariant Identifiers: chr12:g.103238441del (hg19) chr12:g.102844663del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844667del , CM000674.2:g.102844667del GRCh38
NC_000012.11:g.103238445del , CM000674.1:g.103238445del GRCh37
NC_000012.10:g.101762575del NCBI36
NG_008690.1:g.77940del
NG_008690.2:g.118748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-232del MANE Select ENSP00000448059.1:n.970-232del
ENST00000307000.7:c.955-232del ENSP00000303500.2:n.955-232del
ENST00000549247.6:n.729-232del
ENST00000551114.2:n.632-232del
ENST00000553106.5:c.970-232del ENSP00000448059.1:n.970-232del
ENST00000635477.1:c.74-232del
ENST00000635528.1:n.485-232del
NM_000277.1:c.970-232del NP_000268.1:n.970-232del
XM_011538422.1:c.913-232del XP_011536724.1:n.913-232del
NM_000277.2:c.970-232del NP_000268.1:n.970-232del
NM_001354304.1:c.970-232del NP_001341233.1:n.970-232del
NM_000277.3:c.970-232del MANE Select NP_000268.1:n.970-232del
NM_001354304.2:c.970-232del NP_001341233.1:n.970-232del
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