Canonical Allele Identifier: CA286503
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102660
dbSNP Id: rs199475606

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877518C>A , CM000674.2:g.102877518C>A GRCh38
NC_000012.11:g.103271296C>A , CM000674.1:g.103271296C>A GRCh37
NC_000012.10:g.101795426C>A NCBI36
NG_008690.1:g.45085G>T
NG_008690.2:g.85893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.385G>T MANE Select ENSP00000448059.1:p.Asp129Tyr
ENST00000307000.7:c.370G>T ENSP00000303500.2:p.Asp124Tyr
ENST00000549111.5:n.481G>T
ENST00000550978.6:c.369G>T
ENST00000551337.5:c.385G>T ENSP00000447620.1:p.Asp129Tyr
ENST00000551988.5:n.474G>T
ENST00000553106.5:c.385G>T ENSP00000448059.1:p.Asp129Tyr
NM_000277.1:c.385G>T NP_000268.1:p.Asp129Tyr
XM_011538422.1:c.385G>T XP_011536724.1:p.Asp129Tyr
NM_000277.2:c.385G>T NP_000268.1:p.Asp129Tyr
NM_001354304.1:c.385G>T NP_001341233.1:p.Asp129Tyr
XM_017019370.2:c.385G>T XP_016874859.1:p.Asp129Tyr
NM_000277.3:c.385G>T MANE Select NP_000268.1:p.Asp129Tyr
NM_001354304.2:c.385G>T NP_001341233.1:p.Asp129Tyr