Canonical Allele Identifier: CA951232175

Gene: PAH

Linked Data

• dbSNP Id: rs1874885260
• gnomAD v3: 12-102847068-T-TAA
• gnomAD v4: 12-102847068-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102847069_102847070insAA , CM000674.2:g.102847069_102847070insAA	GRCh38
NC_000012.11:g.103240847_103240848insAA , CM000674.1:g.103240847_103240848insAA	GRCh37
NC_000012.10:g.101764977_101764978insAA	NCBI36
NG_008690.1:g.75534_75535insTT
NG_008690.2:g.116342_116343insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.913-118_913-117insTT MANE Select	ENSP00000448059.1:n.913-118_913-117insTT
ENST00000307000.7:c.898-118_898-117insTT	ENSP00000303500.2:n.898-118_898-117insTT
ENST00000549247.6:n.672-118_672-117insTT
ENST00000551114.2:n.575-118_575-117insTT
ENST00000553106.5:c.913-118_913-117insTT	ENSP00000448059.1:n.913-118_913-117insTT
ENST00000635477.1:c.74-2638_74-2637insTT
ENST00000635528.1:n.310_311insTT
NM_000277.1:c.913-118_913-117insTT	NP_000268.1:n.913-118_913-117insTT
XM_011538422.1:c.913-2638_913-2637insTT	XP_011536724.1:n.913-2638_913-2637insTT
NM_000277.2:c.913-118_913-117insTT	NP_000268.1:n.913-118_913-117insTT
NM_001354304.1:c.913-118_913-117insTT	NP_001341233.1:n.913-118_913-117insTT
NM_000277.3:c.913-118_913-117insTT MANE Select	NP_000268.1:n.913-118_913-117insTT
NM_001354304.2:c.913-118_913-117insTT	NP_001341233.1:n.913-118_913-117insTT