Canonical Allele Identifier: CA242472147
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1012668464
gnomAD v3: 12-102917262-G-A
gnomAD v4: 12-102917262-G-A
MyVariant Identifiers: chr12:g.103311040G>A (hg19) chr12:g.102917262G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917262G>A , CM000674.2:g.102917262G>A GRCh38
NC_000012.11:g.103311040G>A , CM000674.1:g.103311040G>A GRCh37
NC_000012.10:g.101835170G>A NCBI36
NG_008690.1:g.5341C>T
NG_008690.2:g.46149C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000546708.5:n.493-37C>T
ENST00000546844.1:c.-95-37C>T ENSP00000446658.1:n.-95-37C>T
ENST00000547319.1:n.217-37C>T
ENST00000551337.5:c.-95-37C>T ENSP00000447620.1:n.-95-37C>T
ENST00000553106.5:c.-132C>T ENSP00000448059.1:n.-132C>T
ENST00000635500.1:n.29-4364C>T
NM_000277.1:c.-132C>T NP_000268.1:n.-132C>T
NM_000277.2:c.-132C>T NP_000268.1:n.-132C>T
NM_001354304.1:c.-95-37C>T NP_001341233.1:n.-95-37C>T
NM_001354304.2:c.-95-37C>T NP_001341233.1:n.-95-37C>T
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