Canonical Allele Identifier: CA242743374
Gene: PAH HGNC NCBI
gnomAD v2:
12:103234109 C / T
gnomAD v3:
12:102840331 C / T
gnomAD v4:
chr12-102840331-C-T
Joint Max Group AF 0.07387235 (AFR)
Genomes Max Group AF 0.07295423 (AFR)
Exomes Max Group AF 0.07359855 (AFR)
ClinVar RCV:
RCV001654636
ClinVar Variation:
1248699
dbSNP:
77181841
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840331C>T , CM000674.2:g.102840331C>T GRCh38
NC_000012.11:g.103234109C>T , CM000674.1:g.103234109C>T GRCh37
NC_000012.10:g.101758239C>T NCBI36
NG_008690.1:g.82272G>A
NG_008690.2:g.123080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1315+69G>A MANE Select ENSP00000448059.1:n.1315+69G>A
ENST00000307000.7:c.1300+69G>A ENSP00000303500.2:n.1300+69G>A
ENST00000551114.2:n.977+69G>A
ENST00000553106.5:c.1315+69G>A ENSP00000448059.1:n.1315+69G>A
ENST00000635477.1:c.419+69G>A
ENST00000635528.1:n.830+69G>A
NM_000277.1:c.1315+69G>A NP_000268.1:n.1315+69G>A
XM_011538422.1:c.1258+69G>A XP_011536724.1:n.1258+69G>A
NM_000277.2:c.1315+69G>A NP_000268.1:n.1315+69G>A
NM_001354304.1:c.1315+69G>A NP_001341233.1:n.1315+69G>A
NM_000277.3:c.1315+69G>A MANE Select NP_000268.1:n.1315+69G>A
NM_001354304.2:c.1315+69G>A NP_001341233.1:n.1315+69G>A
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