Canonical Allele Identifier: CA951260852
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102917186-T-G
gnomAD v4: 12-102917186-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917186T>G , CM000674.2:g.102917186T>G GRCh38
NC_000012.11:g.103310964T>G , CM000674.1:g.103310964T>G GRCh37
NC_000012.10:g.101835094T>G NCBI36
NG_008690.1:g.5417A>C
NG_008690.2:g.46225A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-56A>C MANE Select ENSP00000448059.1:n.-56A>C
ENST00000307000.7:c.-203A>C ENSP00000303500.2:n.-203A>C
ENST00000546708.5:n.532A>C
ENST00000546844.1:c.-56A>C ENSP00000446658.1:n.-56A>C
ENST00000547319.1:n.256A>C
ENST00000549111.5:n.41A>C
ENST00000551337.5:c.-56A>C ENSP00000447620.1:n.-56A>C
ENST00000551988.5:n.34A>C
ENST00000553106.5:c.-56A>C ENSP00000448059.1:n.-56A>C
ENST00000635500.1:n.29-4288A>C
NM_000277.1:c.-56A>C NP_000268.1:n.-56A>C
XM_011538422.1:c.-56A>C XP_011536724.1:n.-56A>C
NM_000277.2:c.-56A>C NP_000268.1:n.-56A>C
NM_001354304.1:c.-56A>C NP_001341233.1:n.-56A>C
XM_017019370.2:c.-56A>C XP_016874859.1:n.-56A>C
NM_000277.3:c.-56A>C MANE Select NP_000268.1:n.-56A>C
NM_001354304.2:c.-56A>C NP_001341233.1:n.-56A>C
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