Canonical Allele Identifier: CA2203673419
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5027607T= , CM000678.2:g.5027607T= GRCh38
NC_000016.9:g.5077608T= , CM000678.1:g.5077608T= GRCh37
NC_000016.8:g.5017609T= NCBI36
NG_028152.1:g.11335A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.1175-228A= MANE Select ENSP00000310998.3:n.1175-228A=
ENST00000649828.1:c.*347-228A= ENSP00000498032.1:n.*347-228A=
ENST00000312251.7:c.1175-228A= ENSP00000310998.3:n.1175-228A=
ENST00000381955.7:c.1174+239A= ENSP00000371381.3:n.1174+239A=
ENST00000562746.5:c.*347-228A= ENSP00000455900.1:n.*347-228A=
ENST00000563578.5:c.738+1273A=
ENST00000564397.5:n.2228-228A=
ENST00000565876.5:c.481-228A=
ENST00000566137.5:n.473-228A=
ENST00000567739.5:n.494-228A=
ENST00000568202.5:n.1038-228A=
ENST00000569296.5:c.788-228A= ENSP00000465949.1:n.788-228A=
NM_016256.3:c.1175-228A= NP_057340.2:n.1175-228A=
XM_011522517.1:c.1175-228A= XP_011520819.1:n.1175-228A=
XR_243285.1:n.1271-228A=
XM_011522517.3:c.1175-228A= XP_011520819.1:n.1175-228A=
XR_001751908.2:n.1270-228A=
XR_001751909.2:n.1274-228A=
XR_001751910.2:n.1303-228A=
XR_001751911.2:n.1303-228A=
XR_001751912.2:n.1307-228A=
NM_016256.4:c.1175-228A= MANE Select NP_057340.2:n.1175-228A=