Canonical Allele Identifier: CA16020836
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932251
ClinVar RCV Id: RCV001199975
dbSNP Id: rs62508696

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855166G>T , CM000674.2:g.102855166G>T GRCh38
NC_000012.11:g.103248944G>T , CM000674.1:g.103248944G>T GRCh37
NC_000012.10:g.101773074G>T NCBI36
NG_008690.1:g.67437C>A
NG_008690.2:g.108245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.676C>A MANE Select ENSP00000448059.1:p.Gln226Lys
ENST00000307000.7:c.661C>A ENSP00000303500.2:p.Gln221Lys
ENST00000549111.5:n.772C>A
ENST00000553106.5:c.676C>A ENSP00000448059.1:p.Gln226Lys
NM_000277.1:c.676C>A NP_000268.1:p.Gln226Lys
XM_011538422.1:c.676C>A XP_011536724.1:p.Gln226Lys
NM_000277.2:c.676C>A NP_000268.1:p.Gln226Lys
NM_001354304.1:c.676C>A NP_001341233.1:p.Gln226Lys
XM_017019370.2:c.676C>A XP_016874859.1:p.Gln226Lys
NM_000277.3:c.676C>A MANE Select NP_000268.1:p.Gln226Lys
NM_001354304.2:c.676C>A NP_001341233.1:p.Gln226Lys