Canonical Allele Identifier: CA242469782

Gene: PAH

Linked Data

• dbSNP Id: rs63714760
• gnomAD v2: 12-103244866-T-TAA
• gnomAD v3: 12-102851088-T-TAA
• gnomAD v4: 12-102851088-T-TAA
• MyVariant Identifiers: chr12:g.103244866_103244867insAA (hg19) ; chr12:g.102851088_102851089insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851091_102851092dup , CM000674.2:g.102851091_102851092dup	GRCh38
NC_000012.11:g.103244869_103244870dup , CM000674.1:g.103244869_103244870dup	GRCh37
NC_000012.10:g.101768999_101769000dup	NCBI36
NG_008690.1:g.71513_71514dup
NG_008690.2:g.112321_112322dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+597_912+598dup MANE Select	ENSP00000448059.1:n.912+597_912+598dup
ENST00000307000.7:c.897+597_897+598dup	ENSP00000303500.2:n.897+597_897+598dup
ENST00000549247.6:n.671+597_671+598dup
ENST00000551114.2:n.574+597_574+598dup
ENST00000553106.5:c.912+597_912+598dup	ENSP00000448059.1:n.912+597_912+598dup
ENST00000635477.1:c.73+597_73+598dup
NM_000277.1:c.912+597_912+598dup	NP_000268.1:n.912+597_912+598dup
XM_011538422.1:c.912+597_912+598dup	XP_011536724.1:n.912+597_912+598dup
NM_000277.2:c.912+597_912+598dup	NP_000268.1:n.912+597_912+598dup
NM_001354304.1:c.912+597_912+598dup	NP_001341233.1:n.912+597_912+598dup
NM_000277.3:c.912+597_912+598dup MANE Select	NP_000268.1:n.912+597_912+598dup
NM_001354304.2:c.912+597_912+598dup	NP_001341233.1:n.912+597_912+598dup