Canonical Allele Identifier: CA607148741

Gene: PAH

Linked Data

• dbSNP Id: rs1230508615
• gnomAD v2: 12-103310955-A-ACAGG
• gnomAD v3: 12-102917177-A-ACAGG
• gnomAD v4: 12-102917177-A-ACAGG
• MyVariant Identifiers: chr12:g.103310956_103310957insAGGC (hg19) ; chr12:g.103310955_103310956insCAGG (hg19) ; chr12:g.102917177_102917178insCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917182_102917185dup , CM000674.2:g.102917182_102917185dup	GRCh38
NC_000012.11:g.103310960_103310963dup , CM000674.1:g.103310960_103310963dup	GRCh37
NC_000012.10:g.101835090_101835093dup	NCBI36
NG_008690.1:g.5422_5425dup
NG_008690.2:g.46230_46233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.-51_-48dup MANE Select	ENSP00000448059.1:n.-51_-48dup
ENST00000307000.7:c.-198_-195dup	ENSP00000303500.2:n.-198_-195dup
ENST00000546708.5:n.537_540dup
ENST00000546844.1:c.-51_-48dup	ENSP00000446658.1:n.-51_-48dup
ENST00000547319.1:n.261_264dup
ENST00000549111.5:n.46_49dup
ENST00000551337.5:c.-51_-48dup	ENSP00000447620.1:n.-51_-48dup
ENST00000551988.5:n.39_42dup
ENST00000553106.5:c.-51_-48dup	ENSP00000448059.1:n.-51_-48dup
ENST00000635500.1:n.29-4283_29-4280dup
NM_000277.1:c.-51_-48dup	NP_000268.1:n.-51_-48dup
XM_011538422.1:c.-51_-48dup	XP_011536724.1:n.-51_-48dup
NM_000277.2:c.-51_-48dup	NP_000268.1:n.-51_-48dup
NM_001354304.1:c.-51_-48dup	NP_001341233.1:n.-51_-48dup
XM_017019370.2:c.-51_-48dup	XP_016874859.1:n.-51_-48dup
NM_000277.3:c.-51_-48dup MANE Select	NP_000268.1:n.-51_-48dup
NM_001354304.2:c.-51_-48dup	NP_001341233.1:n.-51_-48dup