Canonical Allele Identifier: CA2059447264
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874713466
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843952A>G , CM000674.2:g.102843952A>G GRCh38
NC_000012.11:g.103237730A>G , CM000674.1:g.103237730A>G GRCh37
NC_000012.10:g.101761860A>G NCBI36
NG_008690.1:g.78651T>C
NG_008690.2:g.119459T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1066-173T>C MANE Select ENSP00000448059.1:n.1066-173T>C
ENST00000307000.7:c.1051-173T>C ENSP00000303500.2:n.1051-173T>C
ENST00000549247.6:n.825-173T>C
ENST00000551114.2:n.728-173T>C
ENST00000553106.5:c.1066-173T>C ENSP00000448059.1:n.1066-173T>C
ENST00000635477.1:c.170-173T>C
ENST00000635528.1:n.581-173T>C
NM_000277.1:c.1066-173T>C NP_000268.1:n.1066-173T>C
XM_011538422.1:c.1009-173T>C XP_011536724.1:n.1009-173T>C
NM_000277.2:c.1066-173T>C NP_000268.1:n.1066-173T>C
NM_001354304.1:c.1066-173T>C NP_001341233.1:n.1066-173T>C
NM_000277.3:c.1066-173T>C MANE Select NP_000268.1:n.1066-173T>C
NM_001354304.2:c.1066-173T>C NP_001341233.1:n.1066-173T>C
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