Canonical Allele Identifier: CA386294199

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851700G>C , CM000674.2:g.102851700G>C	GRCh38
NC_000012.11:g.103245478G>C , CM000674.1:g.103245478G>C	GRCh37
NC_000012.10:g.101769608G>C	NCBI36
NG_008690.1:g.70903C>G
NG_008690.2:g.111711C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.899C>G MANE Select	NP_000268.1:p.Ala300Gly
ENST00000553106.6:c.899C>G MANE Select	ENSP00000448059.1:p.Ala300Gly
NM_000277.1:c.899C>G	NP_000268.1:p.Ala300Gly
NM_000277.2:c.899C>G	NP_000268.1:p.Ala300Gly
NM_001354304.1:c.899C>G	NP_001341233.1:p.Ala300Gly
NM_001354304.2:c.899C>G	NP_001341233.1:p.Ala300Gly
ENST00000307000.7:c.884C>G	ENSP00000303500.2:p.Ala295Gly
ENST00000549247.6:n.658C>G
ENST00000551114.2:n.561C>G
ENST00000553106.5:c.899C>G	ENSP00000448059.1:p.Ala300Gly
ENST00000635477.1:c.60C>G
XM_011538422.1:c.899C>G	XP_011536724.1:p.Ala300Gly