Canonical Allele Identifier: CA481330729
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1614607
ClinVar RCV Id: RCV002078733
MyVariant Identifiers: chr12:g.103240688A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846910A>G , CM000674.2:g.102846910A>G GRCh38
NC_000012.11:g.103240688A>G , CM000674.1:g.103240688A>G GRCh37
NC_000012.10:g.101764818A>G NCBI36
NG_008690.1:g.75693T>C
NG_008690.2:g.116501T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.954T>C MANE Select ENSP00000448059.1:p.Ile318=
ENST00000307000.7:c.939T>C ENSP00000303500.2:p.Ile313=
ENST00000549247.6:n.713T>C
ENST00000551114.2:n.616T>C
ENST00000553106.5:c.954T>C ENSP00000448059.1:p.Ile318=
ENST00000635477.1:n.74-2479T>C
ENST00000635528.1:n.469T>C
NM_000277.1:c.954T>C NP_000268.1:p.Ile318=
XM_011538422.1:c.913-2479T>C XP_011536724.1:n.913-2479T>C
NM_000277.2:c.954T>C NP_000268.1:p.Ile318=
NM_001354304.1:c.954T>C NP_001341233.1:p.Ile318=
NM_000277.3:c.954T>C MANE Select NP_000268.1:p.Ile318=
NM_001354304.2:c.954T>C NP_001341233.1:p.Ile318=