Canonical Allele Identifier: CA6748814

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851740G>C , CM000674.2:g.102851740G>C	GRCh38
NC_000012.11:g.103245518G>C , CM000674.1:g.103245518G>C	GRCh37
NC_000012.10:g.101769648G>C	NCBI36
NG_008690.1:g.70863C>G
NG_008690.2:g.111671C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.859C>G MANE Select	NP_000268.1:p.Leu287Val
ENST00000553106.6:c.859C>G MANE Select	ENSP00000448059.1:p.Leu287Val
NM_000277.1:c.859C>G	NP_000268.1:p.Leu287Val
NM_000277.2:c.859C>G	NP_000268.1:p.Leu287Val
NM_001354304.1:c.859C>G	NP_001341233.1:p.Leu287Val
NM_001354304.2:c.859C>G	NP_001341233.1:p.Leu287Val
ENST00000307000.7:c.844C>G	ENSP00000303500.2:p.Leu282Val
ENST00000549247.6:n.618C>G
ENST00000551114.2:n.521C>G
ENST00000553106.5:c.859C>G	ENSP00000448059.1:p.Leu287Val
ENST00000635477.1:c.20C>G
XM_011538422.1:c.859C>G	XP_011536724.1:p.Leu287Val