Canonical Allele Identifier: CA229868
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102908
ClinVar RCV Id: RCV000089172
dbSNP Id: rs62642917

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846921C>A , CM000674.2:g.102846921C>A GRCh38
NC_000012.11:g.103240699C>A , CM000674.1:g.103240699C>A GRCh37
NC_000012.10:g.101764829C>A NCBI36
NG_008690.1:g.75682G>T
NG_008690.2:g.116490G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.943G>T MANE Select ENSP00000448059.1:p.Asp315Tyr
ENST00000307000.7:c.928G>T ENSP00000303500.2:p.Asp310Tyr
ENST00000549247.6:n.702G>T
ENST00000551114.2:n.605G>T
ENST00000553106.5:c.943G>T ENSP00000448059.1:p.Asp315Tyr
ENST00000635477.1:c.74-2490G>T
ENST00000635528.1:n.458G>T
NM_000277.1:c.943G>T NP_000268.1:p.Asp315Tyr
XM_011538422.1:c.913-2490G>T XP_011536724.1:n.913-2490G>T
NM_000277.2:c.943G>T NP_000268.1:p.Asp315Tyr
NM_001354304.1:c.943G>T NP_001341233.1:p.Asp315Tyr
NM_000277.3:c.943G>T MANE Select NP_000268.1:p.Asp315Tyr
NM_001354304.2:c.943G>T NP_001341233.1:p.Asp315Tyr