Canonical Allele Identifier: CA242472366

Gene: PAH

Linked Data

• dbSNP Id: rs1024112207
• gnomAD v3: 12-102917378-C-A
• gnomAD v4: 12-102917378-C-A
• MyVariant Identifiers: chr12:g.103311156C>A (hg19) ; chr12:g.102917378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917378C>A , CM000674.2:g.102917378C>A	GRCh38
NC_000012.11:g.103311156C>A , CM000674.1:g.103311156C>A	GRCh37
NC_000012.10:g.101835286C>A	NCBI36
NG_008690.1:g.5226G>T
NG_008690.2:g.46033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-153G>T
ENST00000546844.1:c.-95-153G>T	ENSP00000446658.1:n.-95-153G>T
ENST00000547319.1:n.217-153G>T
ENST00000551337.5:c.-95-153G>T	ENSP00000447620.1:n.-95-153G>T
ENST00000553106.5:c.-248G>T	ENSP00000448059.1:n.-248G>T
ENST00000635500.1:n.29-4480G>T
NM_000277.1:c.-247G>T	NP_000268.1:n.-247G>T
NM_000277.2:c.-248G>T	NP_000268.1:n.-248G>T
NM_001354304.1:c.-95-153G>T	NP_001341233.1:n.-95-153G>T
NM_001354304.2:c.-95-153G>T	NP_001341233.1:n.-95-153G>T