Canonical Allele Identifier: CA2620510724
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917249-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917249A>G , CM000674.2:g.102917249A>G GRCh38
NC_000012.11:g.103311027A>G , CM000674.1:g.103311027A>G GRCh37
NC_000012.10:g.101835157A>G NCBI36
NG_008690.1:g.5354T>C
NG_008690.2:g.46162T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307000.7:c.-266T>C ENSP00000303500.2:n.-266T>C
ENST00000546708.5:n.493-24T>C
ENST00000546844.1:c.-95-24T>C ENSP00000446658.1:n.-95-24T>C
ENST00000547319.1:n.217-24T>C
ENST00000551337.5:c.-95-24T>C ENSP00000447620.1:n.-95-24T>C
ENST00000553106.5:c.-119T>C ENSP00000448059.1:n.-119T>C
ENST00000635500.1:n.29-4351T>C
NM_000277.1:c.-119T>C NP_000268.1:n.-119T>C
NM_000277.2:c.-119T>C NP_000268.1:n.-119T>C
NM_001354304.1:c.-95-24T>C NP_001341233.1:n.-95-24T>C
NM_001354304.2:c.-95-24T>C NP_001341233.1:n.-95-24T>C
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