Canonical Allele Identifier: CA2203659941
Gene: NAGPA HGNC NCBI

Linked Data

dbSNP Id: rs1596662971

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028782G>C , CM000678.2:g.5028782G>C GRCh38
NC_000016.9:g.5078783G>C , CM000678.1:g.5078783G>C GRCh37
NC_000016.8:g.5018784G>C NCBI36
NG_028152.1:g.10160C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.920+98C>G MANE Select ENSP00000310998.3:n.920+98C>G
ENST00000649828.1:c.920+98C>G ENSP00000498032.1:n.920+98C>G
ENST00000312251.7:c.920+98C>G ENSP00000310998.3:n.920+98C>G
ENST00000381955.7:c.920+98C>G ENSP00000371381.3:n.920+98C>G
ENST00000562346.2:c.505-597C>G
ENST00000562746.5:c.920+98C>G ENSP00000455900.1:n.920+98C>G
ENST00000563578.5:c.738+98C>G
ENST00000564397.5:n.1377C>G
ENST00000565876.5:c.481-1403C>G
ENST00000567739.5:n.239+98C>G
ENST00000568202.5:n.783+98C>G
ENST00000569296.5:c.464+98C>G ENSP00000465949.1:n.464+98C>G
NM_016256.3:c.920+98C>G NP_057340.2:n.920+98C>G
XM_011522517.1:c.920+98C>G XP_011520819.1:n.920+98C>G
XM_011522518.1:c.920+98C>G XP_011520820.1:n.920+98C>G
XM_011522519.1:c.920+98C>G XP_011520821.1:n.920+98C>G
XR_243285.1:n.947+98C>G
XM_011522517.3:c.920+98C>G XP_011520819.1:n.920+98C>G
XR_001751908.2:n.946+98C>G
XR_001751909.2:n.946+98C>G
XR_001751910.2:n.946+98C>G
XR_001751911.2:n.946+98C>G
XR_001751912.2:n.946+98C>G
NM_016256.4:c.920+98C>G MANE Select NP_057340.2:n.920+98C>G