Canonical Allele Identifier: CA229867
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102907
dbSNP Id: rs62642940

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846923G>T , CM000674.2:g.102846923G>T GRCh38
NC_000012.11:g.103240701G>T , CM000674.1:g.103240701G>T GRCh37
NC_000012.10:g.101764831G>T NCBI36
NG_008690.1:g.75680C>A
NG_008690.2:g.116488C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.941C>A MANE Select ENSP00000448059.1:p.Pro314His
ENST00000307000.7:c.926C>A ENSP00000303500.2:p.Pro309His
ENST00000549247.6:n.700C>A
ENST00000551114.2:n.603C>A
ENST00000553106.5:c.941C>A ENSP00000448059.1:p.Pro314His
ENST00000635477.1:n.74-2492C>A
ENST00000635528.1:n.456C>A
NM_000277.1:c.941C>A NP_000268.1:p.Pro314His
XM_011538422.1:c.913-2492C>A XP_011536724.1:p.=
NM_000277.2:c.941C>A NP_000268.1:p.Pro314His
NM_001354304.1:c.941C>A NP_001341233.1:p.Pro314His
NM_000277.3:c.941C>A MANE Select NP_000268.1:p.Pro314His
NM_001354304.2:c.941C>A NP_001341233.1:p.Pro314His