Canonical Allele Identifier: CA114365
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 618
dbSNP Id: rs62642934

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846948T>C , CM000674.2:g.102846948T>C GRCh38
NC_000012.11:g.103240726T>C , CM000674.1:g.103240726T>C GRCh37
NC_000012.10:g.101764856T>C NCBI36
NG_008690.1:g.75655A>G
NG_008690.2:g.116463A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.916A>G MANE Select ENSP00000448059.1:p.Ile306Val
ENST00000307000.7:c.901A>G ENSP00000303500.2:p.Ile301Val
ENST00000549247.6:n.675A>G
ENST00000551114.2:n.578A>G
ENST00000553106.5:c.916A>G ENSP00000448059.1:p.Ile306Val
ENST00000635477.1:c.74-2517A>G
ENST00000635528.1:n.431A>G
NM_000277.1:c.916A>G NP_000268.1:p.Ile306Val
XM_011538422.1:c.913-2517A>G XP_011536724.1:n.913-2517A>G
NM_000277.2:c.916A>G NP_000268.1:p.Ile306Val
NM_001354304.1:c.916A>G NP_001341233.1:p.Ile306Val
NM_000277.3:c.916A>G MANE Select NP_000268.1:p.Ile306Val
NM_001354304.2:c.916A>G NP_001341233.1:p.Ile306Val