Canonical Allele Identifier: CA2059456926
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1875968538
gnomAD v4: 12-102866517-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866517T>G , CM000674.2:g.102866517T>G GRCh38
NC_000012.11:g.103260295T>G , CM000674.1:g.103260295T>G GRCh37
NC_000012.10:g.101784425T>G NCBI36
NG_008690.1:g.56086A>C
NG_008690.2:g.96894A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.509+79A>C MANE Select ENSP00000448059.1:n.509+79A>C
ENST00000307000.7:c.494+79A>C ENSP00000303500.2:n.494+79A>C
ENST00000549111.5:n.605+79A>C
ENST00000551988.5:n.530+10945A>C
ENST00000553106.5:c.509+79A>C ENSP00000448059.1:n.509+79A>C
NM_000277.1:c.509+79A>C NP_000268.1:n.509+79A>C
XM_011538422.1:c.509+79A>C XP_011536724.1:n.509+79A>C
NM_000277.2:c.509+79A>C NP_000268.1:n.509+79A>C
NM_001354304.1:c.509+79A>C NP_001341233.1:n.509+79A>C
XM_017019370.2:c.509+79A>C XP_016874859.1:n.509+79A>C
NM_000277.3:c.509+79A>C MANE Select NP_000268.1:n.509+79A>C
NM_001354304.2:c.509+79A>C NP_001341233.1:n.509+79A>C
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