Canonical Allele Identifier: CA2059446135
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874677916
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843562dup , CM000674.2:g.102843562dup GRCh38
NC_000012.11:g.103237340dup , CM000674.1:g.103237340dup GRCh37
NC_000012.10:g.101761470dup NCBI36
NG_008690.1:g.79041dup
NG_008690.2:g.119849dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1199+84dup MANE Select ENSP00000448059.1:n.1199+84dup
ENST00000307000.7:c.1184+84dup ENSP00000303500.2:n.1184+84dup
ENST00000549247.6:n.958+84dup
ENST00000551114.2:n.861+84dup
ENST00000553106.5:c.1199+84dup ENSP00000448059.1:n.1199+84dup
ENST00000635477.1:c.303+84dup
ENST00000635528.1:n.714+84dup
NM_000277.1:c.1199+84dup NP_000268.1:n.1199+84dup
XM_011538422.1:c.1142+84dup XP_011536724.1:n.1142+84dup
NM_000277.2:c.1199+84dup NP_000268.1:n.1199+84dup
NM_001354304.1:c.1199+84dup NP_001341233.1:n.1199+84dup
NM_000277.3:c.1199+84dup MANE Select NP_000268.1:n.1199+84dup
NM_001354304.2:c.1199+84dup NP_001341233.1:n.1199+84dup
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