Canonical Allele Identifier: CA277161522
Gene: NAGPA HGNC NCBI

Linked Data

dbSNP Id: rs1027719796
gnomAD v2: 16-5078972-G-C
gnomAD v3: 16-5028971-G-C
gnomAD v4: 16-5028971-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5028971G>C , CM000678.2:g.5028971G>C GRCh38
NC_000016.9:g.5078972G>C , CM000678.1:g.5078972G>C GRCh37
NC_000016.8:g.5018973G>C NCBI36
NG_028152.1:g.9971C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.829C>G MANE Select ENSP00000310998.3:p.Gln277Glu
ENST00000649828.1:c.829C>G ENSP00000498032.1:p.Gln277Glu
ENST00000312251.7:c.829C>G ENSP00000310998.3:p.Gln277Glu
ENST00000381955.7:c.829C>G ENSP00000371381.3:p.Gln277Glu
ENST00000562037.1:c.590C>G ENSP00000464994.1:n.590C>G
ENST00000562346.2:c.505-786C>G
ENST00000562746.5:c.829C>G ENSP00000455900.1:p.Gln277Glu
ENST00000563578.5:c.647C>G
ENST00000564397.5:n.1188C>G
ENST00000565876.5:c.480+1414C>G
ENST00000567739.5:n.148C>G
ENST00000568202.5:n.692C>G
ENST00000569296.5:c.373C>G ENSP00000465949.1:p.Gln125Glu
NM_016256.3:c.829C>G NP_057340.2:p.Gln277Glu
XM_011522517.1:c.829C>G XP_011520819.1:p.Gln277Glu
XM_011522518.1:c.829C>G XP_011520820.1:p.Gln277Glu
XM_011522519.1:c.829C>G XP_011520821.1:p.Gln277Glu
XR_243285.1:n.856C>G
XM_011522517.3:c.829C>G XP_011520819.1:p.Gln277Glu
XR_001751908.2:n.855C>G
XR_001751909.2:n.855C>G
XR_001751910.2:n.855C>G
XR_001751911.2:n.855C>G
XR_001751912.2:n.855C>G
NM_016256.4:c.829C>G MANE Select NP_057340.2:p.Gln277Glu