Canonical Allele Identifier: CA2741283341
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866563C>G , CM000674.2:g.102866563C>G GRCh38
NC_000012.11:g.103260341C>G , CM000674.1:g.103260341C>G GRCh37
NC_000012.10:g.101784471C>G NCBI36
NG_008690.1:g.56040G>C
NG_008690.2:g.96848G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+33G>C MANE Select ENSP00000448059.1:n.509+33G>C
ENST00000307000.7:c.494+33G>C ENSP00000303500.2:n.494+33G>C
ENST00000549111.5:n.605+33G>C
ENST00000551988.5:n.530+10899G>C
ENST00000553106.5:c.509+33G>C ENSP00000448059.1:n.509+33G>C
NM_000277.1:c.509+33G>C NP_000268.1:n.509+33G>C
XM_011538422.1:c.509+33G>C XP_011536724.1:n.509+33G>C
NM_000277.2:c.509+33G>C NP_000268.1:n.509+33G>C
NM_001354304.1:c.509+33G>C NP_001341233.1:n.509+33G>C
XM_017019370.2:c.509+33G>C XP_016874859.1:n.509+33G>C
NM_000277.3:c.509+33G>C MANE Select NP_000268.1:n.509+33G>C
NM_001354304.2:c.509+33G>C NP_001341233.1:n.509+33G>C
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