Canonical Allele Identifier: CA278610
Gene: NAGPA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30694
ClinVar RCV Id: RCV000023672
dbSNP Id: rs139526942

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028124G>A , CM000678.2:g.5028124G>A GRCh38
NC_000016.9:g.5078125G>A , CM000678.1:g.5078125G>A GRCh37
NC_000016.8:g.5018126G>A NCBI36
NG_028152.1:g.10818C>T

Transcript Alleles

HGVS Amino-acid change
NM_016256.3:c.982C>T VV NP_057340.2:p.Arg328Cys
XM_011522517.1:c.982C>T XP_011520819.1:p.Arg328Cys
XM_011522518.1:c.*80C>T XP_011520820.1:p.=
XR_243285.1:n.1078C>T
XM_011522517.3:c.982C>T XP_011520819.1:p.Arg328Cys
XR_001751908.2:n.1077C>T
XR_001751909.2:n.1081C>T
XR_001751910.2:n.1110C>T
XR_001751911.2:n.1110C>T
XR_001751912.2:n.1114C>T
NM_016256.4:c.982C>T VV MANE Preferred NP_057340.2:p.Arg328Cys
ENST00000312251.7:c.982C>T ENSP00000310998.3:p.Arg328Cys
ENST00000381955.7:c.982C>T ENSP00000371381.3:p.Arg328Cys
ENST00000562346.2:n.566C>T
ENST00000562746.5:c.*154C>T ENSP00000455900.1:p.=
ENST00000563578.5:n.738+756C>T
ENST00000564397.5:n.2035C>T
ENST00000565876.5:n.481-745C>T
ENST00000566137.5:n.280C>T
ENST00000567739.5:n.301C>T
ENST00000568202.5:n.845C>T
ENST00000568528.1:n.491C>T
ENST00000569296.5:n.595C>T ENSP00000465949.1:p.=