Canonical Allele Identifier: CA6748988
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 883981
dbSNP Id: rs528078207

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894807T>C , CM000674.2:g.102894807T>C GRCh38
NC_000012.11:g.103288585T>C , CM000674.1:g.103288585T>C GRCh37
NC_000012.10:g.101812715T>C NCBI36
NG_008690.1:g.27796A>G
NG_008690.2:g.68604A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.280A>G MANE Select ENSP00000448059.1:p.Ile94Val
ENST00000307000.7:c.265A>G ENSP00000303500.2:p.Ile89Val
ENST00000546844.1:c.280A>G ENSP00000446658.1:p.Ile94Val
ENST00000548677.2:n.367A>G
ENST00000548928.1:n.202A>G
ENST00000549111.5:n.376A>G
ENST00000550978.6:c.264A>G
ENST00000551337.5:c.280A>G ENSP00000447620.1:p.Ile94Val
ENST00000551988.5:n.369A>G
ENST00000553106.5:c.280A>G ENSP00000448059.1:p.Ile94Val
NM_000277.1:c.280A>G NP_000268.1:p.Ile94Val
XM_011538422.1:c.280A>G XP_011536724.1:p.Ile94Val
NM_000277.2:c.280A>G NP_000268.1:p.Ile94Val
NM_001354304.1:c.280A>G NP_001341233.1:p.Ile94Val
XM_017019370.2:c.280A>G XP_016874859.1:p.Ile94Val
NM_000277.3:c.280A>G MANE Select NP_000268.1:p.Ile94Val
NM_001354304.2:c.280A>G NP_001341233.1:p.Ile94Val