Canonical Allele Identifier: CA242472231

Gene: PAH

Linked Data

• dbSNP Id: rs910701889
• gnomAD v3: 12-102917290-C-T
• gnomAD v4: 12-102917290-C-T
• MyVariant Identifiers: chr12:g.103311068C>T (hg19) ; chr12:g.102917290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917290C>T , CM000674.2:g.102917290C>T	GRCh38
NC_000012.11:g.103311068C>T , CM000674.1:g.103311068C>T	GRCh37
NC_000012.10:g.101835198C>T	NCBI36
NG_008690.1:g.5313G>A
NG_008690.2:g.46121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-65G>A
ENST00000546844.1:c.-95-65G>A	ENSP00000446658.1:n.-95-65G>A
ENST00000547319.1:n.217-65G>A
ENST00000551337.5:c.-95-65G>A	ENSP00000447620.1:n.-95-65G>A
ENST00000553106.5:c.-160G>A	ENSP00000448059.1:n.-160G>A
ENST00000635500.1:n.29-4392G>A
NM_000277.1:c.-160G>A	NP_000268.1:n.-160G>A
NM_000277.2:c.-160G>A	NP_000268.1:n.-160G>A
NM_001354304.1:c.-95-65G>A	NP_001341233.1:n.-95-65G>A
NM_001354304.2:c.-95-65G>A	NP_001341233.1:n.-95-65G>A