Canonical Allele Identifier: CA386493375
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844337T>A , CM000674.2:g.102844337T>A GRCh38
NC_000012.11:g.103238115T>A , CM000674.1:g.103238115T>A GRCh37
NC_000012.10:g.101762245T>A NCBI36
NG_008690.1:g.78266A>T
NG_008690.2:g.119074A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1064A>T MANE Select ENSP00000448059.1:p.Gln355Leu
ENST00000307000.7:c.1049A>T ENSP00000303500.2:p.Gln350Leu
ENST00000549247.6:n.823A>T
ENST00000551114.2:n.726A>T
ENST00000553106.5:c.1064A>T ENSP00000448059.1:p.Gln355Leu
ENST00000635477.1:c.168A>T
ENST00000635528.1:n.579A>T
NM_000277.1:c.1064A>T NP_000268.1:p.Gln355Leu
XM_011538422.1:c.1007A>T XP_011536724.1:p.Gln336Leu
NM_000277.2:c.1064A>T NP_000268.1:p.Gln355Leu
NM_001354304.1:c.1064A>T NP_001341233.1:p.Gln355Leu
NM_000277.3:c.1064A>T MANE Select NP_000268.1:p.Gln355Leu
NM_001354304.2:c.1064A>T NP_001341233.1:p.Gln355Leu