Canonical Allele Identifier: CA251543
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 619
dbSNP Id: rs62516101

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843683C>T , CM000674.2:g.102843683C>T GRCh38
NC_000012.11:g.103237461C>T , CM000674.1:g.103237461C>T GRCh37
NC_000012.10:g.101761591C>T NCBI36
NG_008690.1:g.78920G>A
NG_008690.2:g.119728G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1162G>A MANE Select ENSP00000448059.1:p.Val388Met
ENST00000307000.7:c.1147G>A ENSP00000303500.2:p.Val383Met
ENST00000549247.6:n.921G>A
ENST00000551114.2:n.824G>A
ENST00000553106.5:c.1162G>A ENSP00000448059.1:p.Val388Met
ENST00000635477.1:c.266G>A
ENST00000635528.1:n.677G>A
NM_000277.1:c.1162G>A NP_000268.1:p.Val388Met
XM_011538422.1:c.1105G>A XP_011536724.1:p.Val369Met
NM_000277.2:c.1162G>A NP_000268.1:p.Val388Met
NM_001354304.1:c.1162G>A NP_001341233.1:p.Val388Met
NM_000277.3:c.1162G>A MANE Select NP_000268.1:p.Val388Met
NM_001354304.2:c.1162G>A NP_001341233.1:p.Val388Met