Canonical Allele Identifier: CA386297038
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855324G>A , CM000674.2:g.102855324G>A GRCh38
NC_000012.11:g.103249102G>A , CM000674.1:g.103249102G>A GRCh37
NC_000012.10:g.101773232G>A NCBI36
NG_008690.1:g.67279C>T
NG_008690.2:g.108087C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.518C>T MANE Select ENSP00000448059.1:p.Pro173Leu
ENST00000307000.7:c.503C>T ENSP00000303500.2:p.Pro168Leu
ENST00000549111.5:n.614C>T
ENST00000551988.5:n.539C>T
ENST00000553106.5:c.518C>T ENSP00000448059.1:p.Pro173Leu
NM_000277.1:c.518C>T NP_000268.1:p.Pro173Leu
XM_011538422.1:c.518C>T XP_011536724.1:p.Pro173Leu
NM_000277.2:c.518C>T NP_000268.1:p.Pro173Leu
NM_001354304.1:c.518C>T NP_001341233.1:p.Pro173Leu
XM_017019370.2:c.518C>T XP_016874859.1:p.Pro173Leu
NM_000277.3:c.518C>T MANE Select NP_000268.1:p.Pro173Leu
NM_001354304.2:c.518C>T NP_001341233.1:p.Pro173Leu