Canonical Allele Identifier: CA951232003
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs766707254

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846863C>G , CM000674.2:g.102846863C>G GRCh38
NC_000012.11:g.103240641C>G , CM000674.1:g.103240641C>G GRCh37
NC_000012.10:g.101764771C>G NCBI36
NG_008690.1:g.75740G>C
NG_008690.2:g.116548G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.969+32G>C MANE Select ENSP00000448059.1:n.969+32G>C
ENST00000307000.7:c.954+32G>C ENSP00000303500.2:n.954+32G>C
ENST00000549247.6:n.728+32G>C
ENST00000551114.2:n.631+32G>C
ENST00000553106.5:c.969+32G>C ENSP00000448059.1:n.969+32G>C
ENST00000635477.1:c.74-2432G>C
ENST00000635528.1:n.484+32G>C
NM_000277.1:c.969+32G>C NP_000268.1:n.969+32G>C
XM_011538422.1:c.913-2432G>C XP_011536724.1:n.913-2432G>C
NM_000277.2:c.969+32G>C NP_000268.1:n.969+32G>C
NM_001354304.1:c.969+32G>C NP_001341233.1:n.969+32G>C
NM_000277.3:c.969+32G>C MANE Select NP_000268.1:n.969+32G>C
NM_001354304.2:c.969+32G>C NP_001341233.1:n.969+32G>C