Canonical Allele Identifier: CA114369
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 628
dbSNP Id: rs62642937

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843706G>A , CM000674.2:g.102843706G>A GRCh38
NC_000012.11:g.103237484G>A , CM000674.1:g.103237484G>A GRCh37
NC_000012.10:g.101761614G>A NCBI36
NG_008690.1:g.78897C>T
NG_008690.2:g.119705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1139C>T MANE Select ENSP00000448059.1:p.Thr380Met
ENST00000307000.7:c.1124C>T ENSP00000303500.2:p.Thr375Met
ENST00000549247.6:n.898C>T
ENST00000551114.2:n.801C>T
ENST00000553106.5:c.1139C>T ENSP00000448059.1:p.Thr380Met
ENST00000635477.1:c.243C>T
ENST00000635528.1:n.654C>T
NM_000277.1:c.1139C>T NP_000268.1:p.Thr380Met
XM_011538422.1:c.1082C>T XP_011536724.1:p.Thr361Met
NM_000277.2:c.1139C>T NP_000268.1:p.Thr380Met
NM_001354304.1:c.1139C>T NP_001341233.1:p.Thr380Met
NM_000277.3:c.1139C>T MANE Select NP_000268.1:p.Thr380Met
NM_001354304.2:c.1139C>T NP_001341233.1:p.Thr380Met