Canonical Allele Identifier: CA2203659883
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028711G= , CM000678.2:g.5028711G= GRCh38
NC_000016.9:g.5078712G= , CM000678.1:g.5078712G= GRCh37
NC_000016.8:g.5018713G= NCBI36
NG_028152.1:g.10231C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.920+169C= MANE Select ENSP00000310998.3:n.920+169C=
ENST00000649828.1:c.920+169C= ENSP00000498032.1:n.920+169C=
ENST00000312251.7:c.920+169C= ENSP00000310998.3:n.920+169C=
ENST00000381955.7:c.920+169C= ENSP00000371381.3:n.920+169C=
ENST00000562346.2:c.505-526C=
ENST00000562746.5:c.920+169C= ENSP00000455900.1:n.920+169C=
ENST00000563578.5:c.738+169C=
ENST00000564397.5:n.1448C=
ENST00000565876.5:c.481-1332C=
ENST00000567739.5:n.239+169C=
ENST00000568202.5:n.783+169C=
ENST00000569296.5:c.464+169C= ENSP00000465949.1:n.464+169C=
NM_016256.3:c.920+169C= NP_057340.2:n.920+169C=
XM_011522517.1:c.920+169C= XP_011520819.1:n.920+169C=
XM_011522518.1:c.920+169C= XP_011520820.1:n.920+169C=
XM_011522519.1:c.920+169C= XP_011520821.1:n.920+169C=
XR_243285.1:n.947+169C=
XM_011522517.3:c.920+169C= XP_011520819.1:n.920+169C=
XR_001751908.2:n.946+169C=
XR_001751909.2:n.946+169C=
XR_001751910.2:n.946+169C=
XR_001751911.2:n.946+169C=
XR_001751912.2:n.946+169C=
NM_016256.4:c.920+169C= MANE Select NP_057340.2:n.920+169C=