Canonical Allele Identifier: CA229870
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102909
ClinVar RCV Id: RCV000089173
dbSNP Id: rs62642918

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846911A>G , CM000674.2:g.102846911A>G GRCh38
NC_000012.11:g.103240689A>G , CM000674.1:g.103240689A>G GRCh37
NC_000012.10:g.101764819A>G NCBI36
NG_008690.1:g.75692T>C
NG_008690.2:g.116500T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.953T>C MANE Select ENSP00000448059.1:p.Ile318Thr
ENST00000307000.7:c.938T>C ENSP00000303500.2:p.Ile313Thr
ENST00000549247.6:n.712T>C
ENST00000551114.2:n.615T>C
ENST00000553106.5:c.953T>C ENSP00000448059.1:p.Ile318Thr
ENST00000635477.1:n.74-2480T>C
ENST00000635528.1:n.468T>C
NM_000277.1:c.953T>C NP_000268.1:p.Ile318Thr
XM_011538422.1:c.913-2480T>C XP_011536724.1:n.913-2480T>C
NM_000277.2:c.953T>C NP_000268.1:p.Ile318Thr
NM_001354304.1:c.953T>C NP_001341233.1:p.Ile318Thr
NM_000277.3:c.953T>C MANE Select NP_000268.1:p.Ile318Thr
NM_001354304.2:c.953T>C NP_001341233.1:p.Ile318Thr