Canonical Allele Identifier: CA682803339

Gene: PAH

Linked Data

• dbSNP Id: rs1368601569
• MyVariant Identifiers: chr12:g.103245157_103245158insT (hg19) ; chr12:g.102851379_102851380insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851380dup , CM000674.2:g.102851380dup	GRCh38
NC_000012.11:g.103245158dup , CM000674.1:g.103245158dup	GRCh37
NC_000012.10:g.101769288dup	NCBI36
NG_008690.1:g.71223dup
NG_008690.2:g.112031dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+307dup MANE Select	ENSP00000448059.1:n.912+307dup
ENST00000307000.7:c.897+307dup	ENSP00000303500.2:n.897+307dup
ENST00000549247.6:n.671+307dup
ENST00000551114.2:n.574+307dup
ENST00000553106.5:c.912+307dup	ENSP00000448059.1:n.912+307dup
ENST00000635477.1:c.73+307dup
NM_000277.1:c.912+307dup	NP_000268.1:n.912+307dup
XM_011538422.1:c.912+307dup	XP_011536724.1:n.912+307dup
NM_000277.2:c.912+307dup	NP_000268.1:n.912+307dup
NM_001354304.1:c.912+307dup	NP_001341233.1:n.912+307dup
NM_000277.3:c.912+307dup MANE Select	NP_000268.1:n.912+307dup
NM_001354304.2:c.912+307dup	NP_001341233.1:n.912+307dup