Canonical Allele Identifier: CA6748848
Gene: PAH HGNC NCBI
gnomAD v2:
12:103246732 G / T
gnomAD v3:
12:102852954 G / T
gnomAD v4:
chr12-102852954-G-T
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV003598407
ClinVar Variation:
2796422
dbSNP:
768323638
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852954G>T , CM000674.2:g.102852954G>T GRCh38
NC_000012.11:g.103246732G>T , CM000674.1:g.103246732G>T GRCh37
NC_000012.10:g.101770862G>T NCBI36
NG_008690.1:g.69649C>A
NG_008690.2:g.110457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-4C>A MANE Select ENSP00000448059.1:n.707-4C>A
ENST00000307000.7:c.692-4C>A ENSP00000303500.2:n.692-4C>A
ENST00000549247.6:n.462C>A
ENST00000553106.5:c.707-4C>A ENSP00000448059.1:n.707-4C>A
NM_000277.1:c.707-4C>A NP_000268.1:n.707-4C>A
XM_011538422.1:c.707-4C>A XP_011536724.1:n.707-4C>A
NM_000277.2:c.707-4C>A NP_000268.1:n.707-4C>A
NM_001354304.1:c.707-4C>A NP_001341233.1:n.707-4C>A
NM_000277.3:c.707-4C>A MANE Select NP_000268.1:n.707-4C>A
NM_001354304.2:c.707-4C>A NP_001341233.1:n.707-4C>A
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