Canonical Allele Identifier: CA394662762
Gene: NAGPA HGNC NCBI

Linked Data

dbSNP Id: rs1234150276
gnomAD v2: 16-5078945-C-G
gnomAD v4: 16-5028944-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028944C>G , CM000678.2:g.5028944C>G GRCh38
NC_000016.9:g.5078945C>G , CM000678.1:g.5078945C>G GRCh37
NC_000016.8:g.5018946C>G NCBI36
NG_028152.1:g.9998G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.856G>C MANE Select ENSP00000310998.3:p.Asp286His
ENST00000649828.1:c.856G>C ENSP00000498032.1:p.Asp286His
ENST00000312251.7:c.856G>C ENSP00000310998.3:p.Asp286His
ENST00000381955.7:c.856G>C ENSP00000371381.3:p.Asp286His
ENST00000562346.2:c.505-759G>C
ENST00000562746.5:c.856G>C ENSP00000455900.1:p.Asp286His
ENST00000563578.5:c.674G>C
ENST00000564397.5:n.1215G>C
ENST00000565876.5:c.480+1441G>C
ENST00000567739.5:n.175G>C
ENST00000568202.5:n.719G>C
ENST00000569296.5:c.400G>C ENSP00000465949.1:p.Asp134His
NM_016256.3:c.856G>C NP_057340.2:p.Asp286His
XM_011522517.1:c.856G>C XP_011520819.1:p.Asp286His
XM_011522518.1:c.856G>C XP_011520820.1:p.Asp286His
XM_011522519.1:c.856G>C XP_011520821.1:p.Asp286His
XR_243285.1:n.883G>C
XM_011522517.3:c.856G>C XP_011520819.1:p.Asp286His
XR_001751908.2:n.882G>C
XR_001751909.2:n.882G>C
XR_001751910.2:n.882G>C
XR_001751911.2:n.882G>C
XR_001751912.2:n.882G>C
NM_016256.4:c.856G>C MANE Select NP_057340.2:p.Asp286His