Canonical Allele Identifier: CA229691
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102783
dbSNP Id: rs62508615

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855164C>G , CM000674.2:g.102855164C>G GRCh38
NC_000012.11:g.103248942C>G , CM000674.1:g.103248942C>G GRCh37
NC_000012.10:g.101773072C>G NCBI36
NG_008690.1:g.67439G>C
NG_008690.2:g.108247G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.678G>C MANE Select ENSP00000448059.1:p.Gln226His
ENST00000307000.7:c.663G>C ENSP00000303500.2:p.Gln221His
ENST00000549111.5:n.774G>C
ENST00000553106.5:c.678G>C ENSP00000448059.1:p.Gln226His
NM_000277.1:c.678G>C NP_000268.1:p.Gln226His
XM_011538422.1:c.678G>C XP_011536724.1:p.Gln226His
NM_000277.2:c.678G>C NP_000268.1:p.Gln226His
NM_001354304.1:c.678G>C NP_001341233.1:p.Gln226His
XM_017019370.2:c.678G>C XP_016874859.1:p.Gln226His
NM_000277.3:c.678G>C MANE Select NP_000268.1:p.Gln226His
NM_001354304.2:c.678G>C NP_001341233.1:p.Gln226His