Canonical Allele Identifier: CA386492873

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102839204G>A , CM000674.2:g.102839204G>A	GRCh38
NC_000012.11:g.103232982G>A , CM000674.1:g.103232982G>A	GRCh37
NC_000012.10:g.101757112G>A	NCBI36
NG_008690.1:g.83399C>T
NG_008690.2:g.124207C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000277.3:c.1330C>T MANE Select	NP_000268.1:p.Leu444Phe
ENST00000553106.6:c.1330C>T MANE Select	ENSP00000448059.1:p.Leu444Phe
NM_000277.1:c.1330C>T	NP_000268.1:p.Leu444Phe
NM_000277.2:c.1330C>T	NP_000268.1:p.Leu444Phe
NM_001354304.1:c.1330C>T	NP_001341233.1:p.Leu444Phe
NM_001354304.2:c.1330C>T	NP_001341233.1:p.Leu444Phe
ENST00000307000.7:c.1315C>T	ENSP00000303500.2:p.Leu439Phe
ENST00000551114.2:n.992C>T
ENST00000553106.5:c.1330C>T	ENSP00000448059.1:p.Leu444Phe
ENST00000635528.1:n.845C>T
XM_011538422.1:c.1273C>T	XP_011536724.1:p.Leu425Phe