Canonical Allele Identifier: CA242472238
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs544326639
gnomAD v2: 12-103311083-C-T
gnomAD v3: 12-102917305-C-T
gnomAD v4: 12-102917305-C-T
MyVariant Identifiers: chr12:g.103311083C>T (hg19) chr12:g.102917305C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917305C>T , CM000674.2:g.102917305C>T GRCh38
NC_000012.11:g.103311083C>T , CM000674.1:g.103311083C>T GRCh37
NC_000012.10:g.101835213C>T NCBI36
NG_008690.1:g.5299G>A
NG_008690.2:g.46106G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-80G>A
ENST00000546844.1:c.-95-80G>A ENSP00000446658.1:n.-95-80G>A
ENST00000547319.1:n.217-80G>A
ENST00000551337.5:c.-95-80G>A ENSP00000447620.1:n.-95-80G>A
ENST00000553106.5:c.-175G>A ENSP00000448059.1:n.-175G>A
ENST00000635500.1:n.29-4407G>A
NM_000277.1:c.-174G>A NP_000268.1:n.-174G>A
NM_000277.2:c.-175G>A NP_000268.1:n.-175G>A
NM_001354304.1:c.-95-80G>A NP_001341233.1:n.-95-80G>A
NM_001354304.2:c.-95-80G>A NP_001341233.1:n.-95-80G>A
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