Canonical Allele Identifier: CA2543928854
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852735G>T , CM000674.2:g.102852735G>T GRCh38
NC_000012.11:g.103246513G>T , CM000674.1:g.103246513G>T GRCh37
NC_000012.10:g.101770643G>T NCBI36
NG_008690.1:g.69868C>A
NG_008690.2:g.110676C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842+80C>A MANE Select ENSP00000448059.1:n.842+80C>A
ENST00000307000.7:c.827+80C>A ENSP00000303500.2:n.827+80C>A
ENST00000549247.6:n.601+80C>A
ENST00000553106.5:c.842+80C>A ENSP00000448059.1:n.842+80C>A
ENST00000635477.1:c.3+80C>A
NM_000277.1:c.842+80C>A NP_000268.1:n.842+80C>A
XM_011538422.1:c.842+80C>A XP_011536724.1:n.842+80C>A
NM_000277.2:c.842+80C>A NP_000268.1:n.842+80C>A
NM_001354304.1:c.842+80C>A NP_001341233.1:n.842+80C>A
NM_000277.3:c.842+80C>A MANE Select NP_000268.1:n.842+80C>A
NM_001354304.2:c.842+80C>A NP_001341233.1:n.842+80C>A