Canonical Allele Identifier: CA2203674038
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028029C= , CM000678.2:g.5028029C= GRCh38
NC_000016.9:g.5078030C= , CM000678.1:g.5078030C= GRCh37
NC_000016.8:g.5018031C= NCBI36
NG_028152.1:g.10913G=

Transcript Alleles

HGVS Amino-acid change
ENST00000312251.8:c.1077G= MANE Select ENSP00000310998.3:p.Glu359=
ENST00000649828.1:c.*249G= ENSP00000498032.1:n.*249G=
ENST00000312251.7:c.1077G= ENSP00000310998.3:p.Glu359=
ENST00000381955.7:c.1077G= ENSP00000371381.3:p.Glu359=
ENST00000562746.5:c.*249G= ENSP00000455900.1:n.*249G=
ENST00000563578.5:c.738+851G=
ENST00000564397.5:n.2130G=
ENST00000565876.5:c.481-650G=
ENST00000566137.5:n.375G=
ENST00000567739.5:n.396G=
ENST00000568202.5:n.940G=
ENST00000569296.5:c.690G= ENSP00000465949.1:n.690G=
NM_016256.3:c.1077G= NP_057340.2:p.Glu359=
XM_011522517.1:c.1077G= XP_011520819.1:p.Glu359=
XR_243285.1:n.1173G=
XM_011522517.3:c.1077G= XP_011520819.1:p.Glu359=
XR_001751908.2:n.1172G=
XR_001751909.2:n.1176G=
XR_001751910.2:n.1205G=
XR_001751911.2:n.1205G=
XR_001751912.2:n.1209G=
NM_016256.4:c.1077G= MANE Select NP_057340.2:p.Glu359=