Canonical Allele Identifier: CA682819268

Gene: PAH

Linked Data

• dbSNP Id: rs1046728731
• gnomAD v3: 12-102917352-G-A
• gnomAD v4: 12-102917352-G-A
• MyVariant Identifiers: chr12:g.103311130G>A (hg19) ; chr12:g.102917352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917352G>A , CM000674.2:g.102917352G>A	GRCh38
NC_000012.11:g.103311130G>A , CM000674.1:g.103311130G>A	GRCh37
NC_000012.10:g.101835260G>A	NCBI36
NG_008690.1:g.5252C>T
NG_008690.2:g.46059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-127C>T
ENST00000546844.1:c.-95-127C>T	ENSP00000446658.1:n.-95-127C>T
ENST00000547319.1:n.217-127C>T
ENST00000551337.5:c.-95-127C>T	ENSP00000447620.1:n.-95-127C>T
ENST00000553106.5:c.-222C>T	ENSP00000448059.1:n.-222C>T
ENST00000635500.1:n.29-4454C>T
NM_000277.1:c.-221C>T	NP_000268.1:n.-221C>T
NM_000277.2:c.-222C>T	NP_000268.1:n.-222C>T
NM_001354304.1:c.-95-127C>T	NP_001341233.1:n.-95-127C>T
NM_001354304.2:c.-95-127C>T	NP_001341233.1:n.-95-127C>T