Canonical Allele Identifier: CA2620511106
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102917299-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917299C>A , CM000674.2:g.102917299C>A GRCh38
NC_000012.11:g.103311077C>A , CM000674.1:g.103311077C>A GRCh37
NC_000012.10:g.101835207C>A NCBI36
NG_008690.1:g.5304G>T
NG_008690.2:g.46112G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-74G>T
ENST00000546844.1:c.-95-74G>T ENSP00000446658.1:n.-95-74G>T
ENST00000547319.1:n.217-74G>T
ENST00000551337.5:c.-95-74G>T ENSP00000447620.1:n.-95-74G>T
ENST00000553106.5:c.-169G>T ENSP00000448059.1:n.-169G>T
ENST00000635500.1:n.29-4401G>T
NM_000277.1:c.-169G>T NP_000268.1:n.-169G>T
NM_000277.2:c.-169G>T NP_000268.1:n.-169G>T
NM_001354304.1:c.-95-74G>T NP_001341233.1:n.-95-74G>T
NM_001354304.2:c.-95-74G>T NP_001341233.1:n.-95-74G>T
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