Canonical Allele Identifier: CA481375641
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1095594
ClinVar RCV Id: RCV001416500
dbSNP Id: rs1874693005
MyVariant Identifiers: chr12:g.103237489A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843711A>G , CM000674.2:g.102843711A>G GRCh38
NC_000012.11:g.103237489A>G , CM000674.1:g.103237489A>G GRCh37
NC_000012.10:g.101761619A>G NCBI36
NG_008690.1:g.78892T>C
NG_008690.2:g.119700T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1134T>C MANE Select ENSP00000448059.1:p.Thr378=
ENST00000307000.7:c.1119T>C ENSP00000303500.2:p.Thr373=
ENST00000549247.6:n.893T>C
ENST00000551114.2:n.796T>C
ENST00000553106.5:c.1134T>C ENSP00000448059.1:p.Thr378=
ENST00000635477.1:c.238T>C
ENST00000635528.1:n.649T>C
NM_000277.1:c.1134T>C NP_000268.1:p.Thr378=
XM_011538422.1:c.1077T>C XP_011536724.1:p.Thr359=
NM_000277.2:c.1134T>C NP_000268.1:p.Thr378=
NM_001354304.1:c.1134T>C NP_001341233.1:p.Thr378=
NM_000277.3:c.1134T>C MANE Select NP_000268.1:p.Thr378=
NM_001354304.2:c.1134T>C NP_001341233.1:p.Thr378=