Canonical Allele Identifier: CA2203660066
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028883T= , CM000678.2:g.5028883T= GRCh38
NC_000016.9:g.5078884T= , CM000678.1:g.5078884T= GRCh37
NC_000016.8:g.5018885T= NCBI36
NG_028152.1:g.10059A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.917A= MANE Select ENSP00000310998.3:p.His306=
ENST00000649828.1:c.917A= ENSP00000498032.1:p.His306=
ENST00000312251.7:c.917A= ENSP00000310998.3:p.His306=
ENST00000381955.7:c.917A= ENSP00000371381.3:p.His306=
ENST00000562346.2:c.505-698A=
ENST00000562746.5:c.917A= ENSP00000455900.1:p.His306=
ENST00000563578.5:c.735A=
ENST00000564397.5:n.1276A=
ENST00000565876.5:c.480+1502A=
ENST00000567739.5:n.236A=
ENST00000568202.5:n.780A=
ENST00000569296.5:c.461A= ENSP00000465949.1:p.His154=
NM_016256.3:c.917A= NP_057340.2:p.His306=
XM_011522517.1:c.917A= XP_011520819.1:p.His306=
XM_011522518.1:c.917A= XP_011520820.1:p.His306=
XM_011522519.1:c.917A= XP_011520821.1:p.His306=
XR_243285.1:n.944A=
XM_011522517.3:c.917A= XP_011520819.1:p.His306=
XR_001751908.2:n.943A=
XR_001751909.2:n.943A=
XR_001751910.2:n.943A=
XR_001751911.2:n.943A=
XR_001751912.2:n.943A=
NM_016256.4:c.917A= MANE Select NP_057340.2:p.His306=