Canonical Allele Identifier: CA386299575
Community Standard Title: NM_000277.3(PAH):c.479A>T (p.Gln160Leu)
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866626T>A , CM000674.2:g.102866626T>A GRCh38
NC_000012.11:g.103260404T>A , CM000674.1:g.103260404T>A GRCh37
NC_000012.10:g.101784534T>A NCBI36
NG_008690.1:g.55977A>T
NG_008690.2:g.96785A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.479A>T MANE Select NP_000268.1:p.Gln160Leu
ENST00000553106.6:c.479A>T MANE Select ENSP00000448059.1:p.Gln160Leu
NM_000277.1:c.479A>T NP_000268.1:p.Gln160Leu
NM_000277.2:c.479A>T NP_000268.1:p.Gln160Leu
NM_001354304.1:c.479A>T NP_001341233.1:p.Gln160Leu
NM_001354304.2:c.479A>T NP_001341233.1:p.Gln160Leu
ENST00000307000.7:c.464A>T ENSP00000303500.2:p.Gln155Leu
ENST00000549111.5:n.575A>T
ENST00000551988.5:n.530+10836A>T
ENST00000553106.5:c.479A>T ENSP00000448059.1:p.Gln160Leu
XM_011538422.1:c.479A>T XP_011536724.1:p.Gln160Leu
XM_017019370.2:c.479A>T XP_016874859.1:p.Gln160Leu
Search 100 bp 5'
Search 100 bp 3'