Canonical Allele Identifier: CA2203673475
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5027644C= , CM000678.2:g.5027644C= GRCh38
NC_000016.9:g.5077645C= , CM000678.1:g.5077645C= GRCh37
NC_000016.8:g.5017646C= NCBI36
NG_028152.1:g.11298G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.1174+202G= MANE Select ENSP00000310998.3:n.1174+202G=
ENST00000649828.1:c.*346+202G= ENSP00000498032.1:n.*346+202G=
ENST00000312251.7:c.1174+202G= ENSP00000310998.3:n.1174+202G=
ENST00000381955.7:c.1174+202G= ENSP00000371381.3:n.1174+202G=
ENST00000562746.5:c.*346+202G= ENSP00000455900.1:n.*346+202G=
ENST00000563578.5:c.738+1236G=
ENST00000564397.5:n.2227+202G=
ENST00000565876.5:c.481-265G=
ENST00000566137.5:n.472+202G=
ENST00000567739.5:n.493+202G=
ENST00000568202.5:n.1037+202G=
ENST00000569296.5:c.787+202G= ENSP00000465949.1:n.787+202G=
NM_016256.3:c.1174+202G= NP_057340.2:n.1174+202G=
XM_011522517.1:c.1174+202G= XP_011520819.1:n.1174+202G=
XR_243285.1:n.1270+202G=
XM_011522517.3:c.1174+202G= XP_011520819.1:n.1174+202G=
XR_001751908.2:n.1269+202G=
XR_001751909.2:n.1273+202G=
XR_001751910.2:n.1302+202G=
XR_001751911.2:n.1302+202G=
XR_001751912.2:n.1306+202G=
NM_016256.4:c.1174+202G= MANE Select NP_057340.2:n.1174+202G=