Canonical Allele Identifier: CA2843143535
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866537dup , CM000674.2:g.102866537dup GRCh38
NC_000012.11:g.103260315dup , CM000674.1:g.103260315dup GRCh37
NC_000012.10:g.101784445dup NCBI36
NG_008690.1:g.56068dup
NG_008690.2:g.96876dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+61dup MANE Select ENSP00000448059.1:n.509+61dup
ENST00000307000.7:c.494+61dup ENSP00000303500.2:n.494+61dup
ENST00000549111.5:n.605+61dup
ENST00000551988.5:n.530+10927dup
ENST00000553106.5:c.509+61dup ENSP00000448059.1:n.509+61dup
NM_000277.1:c.509+61dup NP_000268.1:n.509+61dup
XM_011538422.1:c.509+61dup XP_011536724.1:n.509+61dup
NM_000277.2:c.509+61dup NP_000268.1:n.509+61dup
NM_001354304.1:c.509+61dup NP_001341233.1:n.509+61dup
XM_017019370.2:c.509+61dup XP_016874859.1:n.509+61dup
NM_000277.3:c.509+61dup MANE Select NP_000268.1:n.509+61dup
NM_001354304.2:c.509+61dup NP_001341233.1:n.509+61dup
Search 100 bp 5'
Search 100 bp 3'