Canonical Allele Identifier: CA951235138

Gene: PAH

Linked Data

• dbSNP Id: rs1875201161
• gnomAD v3: 12-102852552-C-T
• gnomAD v4: 12-102852552-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852552C>T , CM000674.2:g.102852552C>T	GRCh38
NC_000012.11:g.103246330C>T , CM000674.1:g.103246330C>T	GRCh37
NC_000012.10:g.101770460C>T	NCBI36
NG_008690.1:g.70051G>A
NG_008690.2:g.110859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+263G>A MANE Select	ENSP00000448059.1:n.842+263G>A
ENST00000307000.7:c.827+263G>A	ENSP00000303500.2:n.827+263G>A
ENST00000549247.6:n.601+263G>A
ENST00000553106.5:c.842+263G>A	ENSP00000448059.1:n.842+263G>A
ENST00000635477.1:c.3+263G>A
NM_000277.1:c.842+263G>A	NP_000268.1:n.842+263G>A
XM_011538422.1:c.842+263G>A	XP_011536724.1:n.842+263G>A
NM_000277.2:c.842+263G>A	NP_000268.1:n.842+263G>A
NM_001354304.1:c.842+263G>A	NP_001341233.1:n.842+263G>A
NM_000277.3:c.842+263G>A MANE Select	NP_000268.1:n.842+263G>A
NM_001354304.2:c.842+263G>A	NP_001341233.1:n.842+263G>A