Canonical Allele Identifier: CA2620510720
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917245-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917245T>C , CM000674.2:g.102917245T>C GRCh38
NC_000012.11:g.103311023T>C , CM000674.1:g.103311023T>C GRCh37
NC_000012.10:g.101835153T>C NCBI36
NG_008690.1:g.5358A>G
NG_008690.2:g.46166A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307000.7:c.-262A>G ENSP00000303500.2:n.-262A>G
ENST00000546708.5:n.493-20A>G
ENST00000546844.1:c.-95-20A>G ENSP00000446658.1:n.-95-20A>G
ENST00000547319.1:n.217-20A>G
ENST00000551337.5:c.-95-20A>G ENSP00000447620.1:n.-95-20A>G
ENST00000553106.5:c.-115A>G ENSP00000448059.1:n.-115A>G
ENST00000635500.1:n.29-4347A>G
NM_000277.1:c.-115A>G NP_000268.1:n.-115A>G
XM_011538422.1:c.-115A>G XP_011536724.1:n.-115A>G
NM_000277.2:c.-115A>G NP_000268.1:n.-115A>G
NM_001354304.1:c.-95-20A>G NP_001341233.1:n.-95-20A>G
NM_001354304.2:c.-95-20A>G NP_001341233.1:n.-95-20A>G
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