Canonical Allele Identifier: CA6748769
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 286662
ClinVar RCV Id: RCV000317688
dbSNP Id: rs140243918

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844399G>A , CM000674.2:g.102844399G>A GRCh38
NC_000012.11:g.103238177G>A , CM000674.1:g.103238177G>A GRCh37
NC_000012.10:g.101762307G>A NCBI36
NG_008690.1:g.78204C>T
NG_008690.2:g.119012C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1002C>T VV NP_000268.1:p.Cys334=
XM_011538422.1:c.945C>T XP_011536724.1:p.Cys315=
NM_000277.2:c.1002C>T VV NP_000268.1:p.Cys334=
NM_001354304.1:c.1002C>T VV NP_001341233.1:p.Cys334=
NM_000277.3:c.1002C>T VV MANE Preferred NP_000268.1:p.Cys334=
ENST00000307000.7:c.987C>T ENSP00000303500.2:p.Cys329=
ENST00000549247.6:n.761C>T
ENST00000551114.2:n.664C>T
ENST00000553106.5:c.1002C>T ENSP00000448059.1:p.Cys334=
ENST00000635477.1:n.106C>T
ENST00000635528.1:n.517C>T