Canonical Allele Identifier: CA2203660051
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028872G= , CM000678.2:g.5028872G= GRCh38
NC_000016.9:g.5078873G= , CM000678.1:g.5078873G= GRCh37
NC_000016.8:g.5018874G= NCBI36
NG_028152.1:g.10070C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.920+8C= MANE Select ENSP00000310998.3:n.920+8C=
ENST00000649828.1:c.920+8C= ENSP00000498032.1:n.920+8C=
ENST00000312251.7:c.920+8C= ENSP00000310998.3:n.920+8C=
ENST00000381955.7:c.920+8C= ENSP00000371381.3:n.920+8C=
ENST00000562346.2:c.505-687C=
ENST00000562746.5:c.920+8C= ENSP00000455900.1:n.920+8C=
ENST00000563578.5:c.738+8C=
ENST00000564397.5:n.1287C=
ENST00000565876.5:c.481-1493C=
ENST00000567739.5:n.239+8C=
ENST00000568202.5:n.783+8C=
ENST00000569296.5:c.464+8C= ENSP00000465949.1:n.464+8C=
NM_016256.3:c.920+8C= NP_057340.2:n.920+8C=
XM_011522517.1:c.920+8C= XP_011520819.1:n.920+8C=
XM_011522518.1:c.920+8C= XP_011520820.1:n.920+8C=
XM_011522519.1:c.920+8C= XP_011520821.1:n.920+8C=
XR_243285.1:n.947+8C=
XM_011522517.3:c.920+8C= XP_011520819.1:n.920+8C=
XR_001751908.2:n.946+8C=
XR_001751909.2:n.946+8C=
XR_001751910.2:n.946+8C=
XR_001751911.2:n.946+8C=
XR_001751912.2:n.946+8C=
NM_016256.4:c.920+8C= MANE Select NP_057340.2:n.920+8C=