Canonical Allele Identifier: CA682803270
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1181859702
MyVariant Identifiers: chr12:g.103244995_103244996insATAT (hg19) chr12:g.102851217_102851218insATAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851219_102851220insATAT , CM000674.2:g.102851219_102851220insATAT GRCh38
NC_000012.11:g.103244997_103244998insATAT , CM000674.1:g.103244997_103244998insATAT GRCh37
NC_000012.10:g.101769127_101769128insATAT NCBI36
NG_008690.1:g.71385_71386insATAT
NG_008690.2:g.112193_112194insATAT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+469_912+470insATAT MANE Select ENSP00000448059.1:n.912+469_912+470insATA...
ENST00000307000.7:c.897+469_897+470insATAT ENSP00000303500.2:n.897+469_897+470insATA...
ENST00000549247.6:n.671+469_671+470insATAT
ENST00000551114.2:n.574+469_574+470insATAT
ENST00000553106.5:c.912+469_912+470insATAT ENSP00000448059.1:n.912+469_912+470insATA...
ENST00000635477.1:c.73+469_73+470insATAT
NM_000277.1:c.912+469_912+470insATAT NP_000268.1:n.912+469_912+470insATAT
XM_011538422.1:c.912+469_912+470insATAT XP_011536724.1:n.912+469_912+470insATAT
NM_000277.2:c.912+469_912+470insATAT NP_000268.1:n.912+469_912+470insATAT
NM_001354304.1:c.912+469_912+470insATAT NP_001341233.1:n.912+469_912+470insATAT
NM_000277.3:c.912+469_912+470insATAT MANE Select NP_000268.1:n.912+469_912+470insATAT
NM_001354304.2:c.912+469_912+470insATAT NP_001341233.1:n.912+469_912+470insATAT
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