Canonical Allele Identifier: CA242473546
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs189904533
gnomAD v2: 12-103248489-C-T
gnomAD v3: 12-102854711-C-T
gnomAD v4: 12-102854711-C-T
MyVariant Identifiers: chr12:g.103248489C>T (hg19) chr12:g.102854711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854711C>T , CM000674.2:g.102854711C>T GRCh38
NC_000012.11:g.103248489C>T , CM000674.1:g.103248489C>T GRCh37
NC_000012.10:g.101772619C>T NCBI36
NG_008690.1:g.67892G>A
NG_008690.2:g.108700G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+425G>A MANE Select ENSP00000448059.1:n.706+425G>A
ENST00000307000.7:c.691+425G>A ENSP00000303500.2:n.691+425G>A
ENST00000549111.5:n.1227G>A
ENST00000553106.5:c.706+425G>A ENSP00000448059.1:n.706+425G>A
NM_000277.1:c.706+425G>A NP_000268.1:n.706+425G>A
XM_011538422.1:c.706+425G>A XP_011536724.1:n.706+425G>A
NM_000277.2:c.706+425G>A NP_000268.1:n.706+425G>A
NM_001354304.1:c.706+425G>A NP_001341233.1:n.706+425G>A
XM_017019370.2:c.*74G>A XP_016874859.1:n.*74G>A
NM_000277.3:c.706+425G>A MANE Select NP_000268.1:n.706+425G>A
NM_001354304.2:c.706+425G>A NP_001341233.1:n.706+425G>A
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