Canonical Allele Identifier: CA2059443847

Gene: PAH

Linked Data

• dbSNP Id: rs1875138016

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851300A>C , CM000674.2:g.102851300A>C	GRCh38
NC_000012.11:g.103245078A>C , CM000674.1:g.103245078A>C	GRCh37
NC_000012.10:g.101769208A>C	NCBI36
NG_008690.1:g.71303T>G
NG_008690.2:g.112111T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+387T>G MANE Select	ENSP00000448059.1:n.912+387T>G
ENST00000307000.7:c.897+387T>G	ENSP00000303500.2:n.897+387T>G
ENST00000549247.6:n.671+387T>G
ENST00000551114.2:n.574+387T>G
ENST00000553106.5:c.912+387T>G	ENSP00000448059.1:n.912+387T>G
ENST00000635477.1:c.73+387T>G
NM_000277.1:c.912+387T>G	NP_000268.1:n.912+387T>G
XM_011538422.1:c.912+387T>G	XP_011536724.1:n.912+387T>G
NM_000277.2:c.912+387T>G	NP_000268.1:n.912+387T>G
NM_001354304.1:c.912+387T>G	NP_001341233.1:n.912+387T>G
NM_000277.3:c.912+387T>G MANE Select	NP_000268.1:n.912+387T>G
NM_001354304.2:c.912+387T>G	NP_001341233.1:n.912+387T>G