Canonical Allele Identifier: CA912973333
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103249009dup (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855231dup , CM000674.2:g.102855231dup GRCh38
NC_000012.11:g.103249009dup , CM000674.1:g.103249009dup GRCh37
NC_000012.10:g.101773139dup NCBI36
NG_008690.1:g.67372dup
NG_008690.2:g.108180dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.611dup MANE Select ENSP00000448059.1:p.Tyr204Ter
ENST00000307000.7:c.596dup ENSP00000303500.2:p.Tyr199Ter
ENST00000549111.5:n.707dup
ENST00000553106.5:c.611dup ENSP00000448059.1:p.Tyr204Ter
NM_000277.1:c.611dup NP_000268.1:p.Tyr204Ter
XM_011538422.1:c.611dup XP_011536724.1:p.Tyr204Ter
NM_000277.2:c.611dup NP_000268.1:p.Tyr204Ter
NM_001354304.1:c.611dup NP_001341233.1:p.Tyr204Ter
XM_017019370.2:c.611dup XP_016874859.1:p.Tyr204Ter
NM_000277.3:c.611dup MANE Select NP_000268.1:p.Tyr204Ter
NM_001354304.2:c.611dup NP_001341233.1:p.Tyr204Ter
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