Canonical Allele Identifier: CA2203673884
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5027936A= , CM000678.2:g.5027936A= GRCh38
NC_000016.9:g.5077937A= , CM000678.1:g.5077937A= GRCh37
NC_000016.8:g.5017938A= NCBI36
NG_028152.1:g.11006T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.1127-43T= MANE Select ENSP00000310998.3:n.1127-43T=
ENST00000649828.1:c.*299-43T= ENSP00000498032.1:n.*299-43T=
ENST00000312251.7:c.1127-43T= ENSP00000310998.3:n.1127-43T=
ENST00000381955.7:c.1127-43T= ENSP00000371381.3:n.1127-43T=
ENST00000562746.5:c.*299-43T= ENSP00000455900.1:n.*299-43T=
ENST00000563578.5:c.738+944T=
ENST00000564397.5:n.2180-43T=
ENST00000565876.5:c.481-557T=
ENST00000566137.5:n.425-43T=
ENST00000567739.5:n.446-43T=
ENST00000568202.5:n.990-43T=
ENST00000569296.5:c.740-43T= ENSP00000465949.1:n.740-43T=
NM_016256.3:c.1127-43T= NP_057340.2:n.1127-43T=
XM_011522517.1:c.1127-43T= XP_011520819.1:n.1127-43T=
XR_243285.1:n.1223-43T=
XM_011522517.3:c.1127-43T= XP_011520819.1:n.1127-43T=
XR_001751908.2:n.1222-43T=
XR_001751909.2:n.1226-43T=
XR_001751910.2:n.1255-43T=
XR_001751911.2:n.1255-43T=
XR_001751912.2:n.1259-43T=
NM_016256.4:c.1127-43T= MANE Select NP_057340.2:n.1127-43T=