Canonical Allele Identifier: CA951234923

Gene: PAH

Linked Data

• dbSNP Id: rs973300958
• gnomAD v3: 12-102851773-A-T
• gnomAD v4: 12-102851773-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851773A>T , CM000674.2:g.102851773A>T	GRCh38
NC_000012.11:g.103245551A>T , CM000674.1:g.103245551A>T	GRCh37
NC_000012.10:g.101769681A>T	NCBI36
NG_008690.1:g.70830T>A
NG_008690.2:g.111638T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-17T>A MANE Select	ENSP00000448059.1:n.843-17T>A
ENST00000307000.7:c.828-17T>A	ENSP00000303500.2:n.828-17T>A
ENST00000549247.6:n.602-17T>A
ENST00000551114.2:n.488T>A
ENST00000553106.5:c.843-17T>A	ENSP00000448059.1:n.843-17T>A
ENST00000635477.1:c.4-17T>A
NM_000277.1:c.843-17T>A	NP_000268.1:n.843-17T>A
XM_011538422.1:c.843-17T>A	XP_011536724.1:n.843-17T>A
NM_000277.2:c.843-17T>A	NP_000268.1:n.843-17T>A
NM_001354304.1:c.843-17T>A	NP_001341233.1:n.843-17T>A
NM_000277.3:c.843-17T>A MANE Select	NP_000268.1:n.843-17T>A
NM_001354304.2:c.843-17T>A	NP_001341233.1:n.843-17T>A