Canonical Allele Identifier: CA2059444823

Gene: PAH

Linked Data

• dbSNP Id: rs949413902
• gnomAD v4: 12-102851820-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851820T>C , CM000674.2:g.102851820T>C	GRCh38
NC_000012.11:g.103245598T>C , CM000674.1:g.103245598T>C	GRCh37
NC_000012.10:g.101769728T>C	NCBI36
NG_008690.1:g.70783A>G
NG_008690.2:g.111591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.843-64A>G MANE Select	ENSP00000448059.1:n.843-64A>G
ENST00000307000.7:c.828-64A>G	ENSP00000303500.2:n.828-64A>G
ENST00000549247.6:n.602-64A>G
ENST00000551114.2:n.441A>G
ENST00000553106.5:c.843-64A>G	ENSP00000448059.1:n.843-64A>G
ENST00000635477.1:c.4-64A>G
NM_000277.1:c.843-64A>G	NP_000268.1:n.843-64A>G
XM_011538422.1:c.843-64A>G	XP_011536724.1:n.843-64A>G
NM_000277.2:c.843-64A>G	NP_000268.1:n.843-64A>G
NM_001354304.1:c.843-64A>G	NP_001341233.1:n.843-64A>G
NM_000277.3:c.843-64A>G MANE Select	NP_000268.1:n.843-64A>G
NM_001354304.2:c.843-64A>G	NP_001341233.1:n.843-64A>G